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Ontology Browser

Term:
spondyloepimetaphyseal dysplasia, Genevieve-type (DOID:0080576)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Ataxia +     
Hirsutism +     
microcephaly +     
16p11.2 Deletion Syndrome  
2-aminoadipic 2-oxoadipic aciduria  
3-M syndrome +   
3-Methylcrotonyl-CoA carboxylase deficiency +   
3-methylglutaconic aciduria type 1  
3-methylglutaconic aciduria type 3  
3-methylglutaconic aciduria type 5  
3-methylglutaconic aciduria type 8  
3-methylglutaconic aciduria type 9  
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
3MC syndrome +   
3p deletion syndrome 
46,XY sex reversal 5  
46,XY sex reversal 7  
46,XY sex reversal 8  
ABCD syndrome  
abetalipoproteinemia +   
Abetalipoproteinemia Neuropathy  
Absent Eyebrows and Eyelashes with Mental Retardation 
Acanthosis Nigricans Muscle Cramps Acral Enlargement 
aceruloplasminemia  
achalasia microcephaly syndrome 
acheiropody  
achondrogenesis type IA  
achondrogenesis type IB  
achromatopsia 2  
achromatopsia 3  
achromatopsia 7  
acrocapitofemoral dysplasia  
acrodysostosis +   
acromesomelic dysplasia, Grebe type  
acromesomelic dysplasia, Hunter-Thompson type  
acromesomelic dysplasia, Maroteaux type  
acrorenal syndrome +  
adult spinal muscular atrophy  
adult-onset ataxia and polyneuropathy  
agammaglobulinemia 4  
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
AGAT deficiency  
agenesis of the corpus callosum with peripheral neuropathy  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Akesson Syndrome 
Al Gazali Aziz Salem Syndrome 
Al-Raqad Syndrome  
Alacrima, Achalasia, and Mental Retardation Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alkuraya-Kucinskas syndrome  
Alopecia Contractures Dwarfism Mental Retardation 
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 
alopecia universalis +   
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome  
alopecia-mental retardation syndrome +   
alopecia-mental retardation syndrome 1  
alopecia-mental retardation syndrome 2 
Alpers-Huttenlocher syndrome +   
alpha thalassemia-intellectual disability syndrome type 1 
alpha-2-plasmin inhibitor deficiency  
Alstrom syndrome  
amelogenesis imperfecta hypomaturation type 2A2  
amelogenesis imperfecta hypomaturation type 2A3  
amelogenesis imperfecta hypomaturation type 2A4  
amelogenesis imperfecta hypomaturation type 2A5  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
amelogenesis imperfecta type 2A1  
amelogenesis imperfecta type 3C  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Amish Lethal Microcephaly  
AMME complex  
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
Amyotrophic Dystonic Paraplegia 
Anauxetic Dysplasia +   
Ansell Bywaters Elderking Syndrome 
anterior segment dysgenesis 2 +   
anterior segment dysgenesis 7  
anterior segment dysgenesis 8  
antithrombin III deficiency  
Antley-Bixler syndrome +   
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Aphalangia Syndactyly Microcephaly 
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
ARC syndrome +   
arrhythmogenic right ventricular dysplasia 11  
Arthrogryposis, Mental Retardation, and Seizures  
Arts syndrome  
Asparagine Synthetase Deficiency  
asphyxiating thoracic dystrophy +   
Ataxia with Fasciculations 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
Ataxia, Deafness, and Cardiomyopathy 
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS  
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
ataxic cerebral palsy 
Athabaskan brainstem dysgenesis syndrome  
Atonic-Astatic Syndrome of Foerster 
atransferrinemia  
atrial standstill 2  
atrichia with papular lesions  
Au-Kline Syndrome  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
autosomal dominant mental retardation 50  
autosomal dominant microcephaly +   
autosomal recessive Alport syndrome  
autosomal recessive centronuclear myopathy +   
autosomal recessive cerebellar ataxia +   
autosomal recessive chronic granulomatous disease cytochrome b-negative  
autosomal recessive chronic granulomatous disease cytochrome b-positive type I  
autosomal recessive chronic granulomatous disease cytochrome b-positive type II  
autosomal recessive chronic granulomatous disease cytochrome b-positive type III  
autosomal recessive congenital bilateral absence of vas deferens  
autosomal recessive congenital ichthyosis +   
autosomal recessive congenital nystagmus 
Autosomal Recessive Cutis Laxa +   
autosomal recessive cutis laxa type III +   
autosomal recessive distal hereditary motor neuronopathy +   
Autosomal Recessive Dyskeratosis Congenita +   
autosomal recessive Emery-Dreifuss muscular dystrophy 3  
autosomal recessive hyaline body myopathy  
autosomal recessive hypophosphatemic rickets +   
autosomal recessive isolated ectopia lentis 2  
autosomal recessive limb-girdle muscular dystrophy +   
autosomal recessive limb-girdle muscular dystrophy type 2P  
autosomal recessive non-syndromic intellectual disability +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive osteopetrosis 1  
autosomal recessive osteopetrosis 2  
autosomal recessive osteopetrosis 3  
autosomal recessive osteopetrosis 4  
autosomal recessive osteopetrosis 5  
autosomal recessive osteopetrosis 6  
autosomal recessive osteopetrosis 7  
autosomal recessive osteopetrosis 8  
autosomal recessive pericentral pigmentary retinopathy 
autosomal recessive polycystic kidney disease +   
autosomal recessive pseudohypoaldosteronism type 1  
autosomal recessive pyridoxine-refractory sideroblastic anemia 2  
autosomal recessive pyridoxine-refractory sideroblastic anemia 3  
autosomal recessive Robinow syndrome  
Autosomal Recessive Robinow Syndrome 2  
autosomal recessive spinocerebellar ataxia 12  
autosomal recessive thrombophilia due to protein C deficiency  
autosomal recessive thrombophilia due to protein S deficiency  
autosomal recessive type IV Ehlers-Danlos syndrome 
autosomal recessive Whistling face syndrome 
Autosomal Recessive Woolly Hair +   
Ayme-Gripp syndrome  
Baetz-Greenwalt syndrome 
Bangstad Syndrome 
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Barber-Say syndrome  
Bardet-Biedl syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Behr syndrome  
Bellini Chiumello Rimoldi Syndrome 
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
Bernard-Soulier syndrome +   
beta-ketothiolase deficiency  
Bhaskar Jagannathan Syndrome 
Biemond Syndrome II 
Birk-Barel syndrome  
Bjornstad syndrome  
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Bloom syndrome  
Bohring Syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boucher-Neuhauser syndrome  
Boudhina Yedes Khiari syndrome 
Bowen-Conradi syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachydactyly, Type A2, With Microcephaly 
brachyolmia-amelogenesis imperfecta syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
brittle cornea syndrome 1  
brittle cornea syndrome 2  
Brown-Vialetto-Van Laere syndrome +   
Brunner syndrome  
Bullous Dystrophy, Hereditary Macular Type 
C syndrome  
CAHMR Syndrome 
Camera Marugo Cohen Syndrome 
CAMFAK Syndrome 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Canavan disease  
CANOMAD Syndrome 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
carbamoyl phosphate synthetase I deficiency disease  
carboxypeptidase N deficiency  
Carnitine Acetyltransferase Deficiency  
carnitine-acylcarnitine translocase deficiency  
cartilage-hair hypoplasia  
Cartwright Nelson Fryns Syndrome 
cataract 48  
Cataract Ataxia Deafness 
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATIFA Syndrome  
CD3epsilon deficiency 
CD3gamma deficiency 
CEDNIK syndrome  
Cephalin Lipidosis 
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
Cerebellofaciodental Syndrome  
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
Cerebral Visual Impairment and Intellectual Disability  
cerebrocostomandibular syndrome  
Cerebrofaciothoracic Dysplasia  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Charcot-Marie-Tooth disease axonal type 2H 
Charcot-Marie-Tooth disease axonal type 2K  
Charcot-Marie-Tooth disease axonal type 2P  
Charcot-Marie-Tooth disease axonal type 2S  
Charcot-Marie-Tooth disease axonal type 2T  
Charcot-Marie-Tooth disease axonal type 2X  
Charcot-Marie-Tooth disease recessive intermediate A  
Charcot-Marie-Tooth disease recessive intermediate B  
Charcot-Marie-Tooth disease recessive intermediate C  
Charcot-Marie-Tooth disease recessive intermediate D  
Charcot-Marie-Tooth disease type 1F  
Charcot-Marie-Tooth disease type 2A2B  
Charcot-Marie-Tooth disease type 2B1  
Charcot-Marie-Tooth disease type 2B2  
Charcot-Marie-Tooth disease type 2EE  
Charcot-Marie-Tooth disease type 2R  
Charcot-Marie-Tooth disease type 3  
Charcot-Marie-Tooth disease type 4A  
Charcot-Marie-Tooth disease type 4B1  
Charcot-Marie-Tooth disease type 4B2  
Charcot-Marie-Tooth disease type 4B3  
Charcot-Marie-Tooth disease type 4C  
Charcot-Marie-Tooth disease type 4D  
Charcot-Marie-Tooth disease type 4E  
Charcot-Marie-Tooth disease type 4F  
Charcot-Marie-Tooth disease type 4G  
Charcot-Marie-Tooth disease type 4H  
Charcot-Marie-Tooth disease type 4J  
Charcot-Marie-Tooth disease type 4K  
Chediak-Higashi syndrome +   
choreaacanthocytosis  
Choroid Plexus Calcification with Mental Retardation 
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 13q14 deletion syndrome  
chromosome 15q11.2 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 1q21.1 duplication syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 3q29 microdeletion syndrome 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
Chudley-Rozdilsky Syndrome 
CK syndrome  
classic galactosemia  
cleft lip-palate-ectodermal dysplasia syndrome  
cleft palate, cardiac defects, and intellectual disabillity  
COACH syndrome  
Cochlear Deafness with Myopia and Intellectual Impairment 
Cockayne syndrome +   
CODAS syndrome  
coenzyme Q10 deficiency disease +   
Coffin Syndrome 1 
Cohen syndrome  
Cohen-Gibson Syndrome  
cold-induced sweating syndrome +   
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
combined D-2- and L-2-hydroxyglutaric aciduria  
combined malonic and methylmalonic acidemia  
combined oxidative phosphorylation deficiency 1  
combined oxidative phosphorylation deficiency 10  
combined oxidative phosphorylation deficiency 11  
combined oxidative phosphorylation deficiency 12  
combined oxidative phosphorylation deficiency 13  
combined oxidative phosphorylation deficiency 14  
combined oxidative phosphorylation deficiency 15  
combined oxidative phosphorylation deficiency 16  
combined oxidative phosphorylation deficiency 17  
combined oxidative phosphorylation deficiency 18  
combined oxidative phosphorylation deficiency 19  
combined oxidative phosphorylation deficiency 2  
combined oxidative phosphorylation deficiency 20  
combined oxidative phosphorylation deficiency 21  
combined oxidative phosphorylation deficiency 22  
combined oxidative phosphorylation deficiency 23  
combined oxidative phosphorylation deficiency 24  
combined oxidative phosphorylation deficiency 25  
combined oxidative phosphorylation deficiency 26  
combined oxidative phosphorylation deficiency 27  
combined oxidative phosphorylation deficiency 28  
combined oxidative phosphorylation deficiency 29  
combined oxidative phosphorylation deficiency 3  
combined oxidative phosphorylation deficiency 30  
combined oxidative phosphorylation deficiency 31  
combined oxidative phosphorylation deficiency 32  
combined oxidative phosphorylation deficiency 33  
combined oxidative phosphorylation deficiency 34  
combined oxidative phosphorylation deficiency 35  
combined oxidative phosphorylation deficiency 36  
combined oxidative phosphorylation deficiency 37  
combined oxidative phosphorylation deficiency 38  
combined oxidative phosphorylation deficiency 39  
combined oxidative phosphorylation deficiency 4  
combined oxidative phosphorylation deficiency 5  
combined oxidative phosphorylation deficiency 7  
combined oxidative phosphorylation deficiency 8  
combined oxidative phosphorylation deficiency 9  
Compton-North congenital myopathy  
congenital adrenal insufficiency  
congenital afibrinogenemia +   
congenital amegakaryocytic thrombocytopenia  
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
congenital diarrhea 5 with tufting enteropathy  
congenital diarrhea 7 with exudative enteropathy  
congenital disorder of glycosylation Ia  
congenital disorder of glycosylation Iaa  
congenital disorder of glycosylation Ib  
congenital disorder of glycosylation Ic  
congenital disorder of glycosylation Id  
congenital disorder of glycosylation Ie  
congenital disorder of glycosylation If  
congenital disorder of glycosylation Ig  
congenital disorder of glycosylation Ih  
congenital disorder of glycosylation Ii  
congenital disorder of glycosylation Ij  
congenital disorder of glycosylation Ik  
congenital disorder of glycosylation Il  
congenital disorder of glycosylation Im  
congenital disorder of glycosylation In  
congenital disorder of glycosylation Ip  
congenital disorder of glycosylation Iq  
congenital disorder of glycosylation Ir  
congenital disorder of glycosylation It  
congenital disorder of glycosylation Iu  
congenital disorder of glycosylation Iw  
congenital disorder of glycosylation Ix  
congenital disorder of glycosylation type IIa  
congenital disorder of glycosylation type IIb  
congenital disorder of glycosylation type IIc  
congenital disorder of glycosylation type IId  
congenital disorder of glycosylation type IIe  
congenital disorder of glycosylation type IIf  
congenital disorder of glycosylation type IIg  
congenital disorder of glycosylation type IIh  
congenital disorder of glycosylation type IIi  
congenital disorder of glycosylation type IIj  
congenital disorder of glycosylation type IIk  
congenital disorder of glycosylation type IIl  
congenital disorder of glycosylation type IIn  
congenital disorder of glycosylation type IIo  
congenital disorder of glycosylation type IIp  
congenital disorder of glycosylation type IIq  
congenital dyserythropoietic anemia type Ia  
congenital dyserythropoietic anemia type Ib  
congenital dyserythropoietic anemia type II  
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
congenital generalized lipodystrophy +   
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
congenital heart defects, hamartomas of tongue, and polysyndactyly  
congenital hereditary endothelial dystrophy of cornea  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
congenital hypotrichosis with juvenile macular dystrophy  
congenital lactase deficiency  
congenital leptin deficiency  
congenital malabsorptive diarrhea 4  
congenital merosin-deficient muscular dystrophy 1A +   
congenital muscular dystrophy 1B 
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital muscular dystrophy due to integrin alpha-7 deficiency  
congenital muscular dystrophy merosin-positive 
Congenital Muscular Dystrophy plus Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
congenital myasthenic syndrome 10  
congenital myasthenic syndrome 11  
congenital myasthenic syndrome 12  
congenital myasthenic syndrome 13  
congenital myasthenic syndrome 14  
congenital myasthenic syndrome 15  
congenital myasthenic syndrome 16  
congenital myasthenic syndrome 17  
congenital myasthenic syndrome 19  
congenital myasthenic syndrome 1B  
congenital myasthenic syndrome 20  
congenital myasthenic syndrome 21  
congenital myasthenic syndrome 22  
congenital myasthenic syndrome 2C  
congenital myasthenic syndrome 3B  
congenital myasthenic syndrome 3C  
congenital myasthenic syndrome 4A  
congenital myasthenic syndrome 4B  
congenital myasthenic syndrome 4C  
congenital myasthenic syndrome 5  
congenital myasthenic syndrome 6  
congenital myasthenic syndrome 8  
congenital myasthenic syndrome 9  
congenital nongoitrous hypothyroidism 1  
congenital nongoitrous hypothyroidism 4  
congenital nongoitrous hypothyroidism 7  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
congenital secretory sodium diarrhea 8  
congenital stationary night blindness 1B  
congenital stationary night blindness 1C  
congenital stationary night blindness 1D  
congenital stationary night blindness 1E  
congenital stationary night blindness 1F  
congenital stationary night blindness 1G  
congenital stationary night blindness 1H  
congenital sucrase-isomaltase deficiency  
Congenital Symmetric Circumferential Skin Creases +   
corneal dystrophy-perceptive deafness syndrome  
Cornelia de Lange syndrome +   
Cortical Blindness, Retardation, and Postaxial Polydactyly 
cortical dysplasia-focal epilepsy syndrome  
corticosterone methyloxidase deficiency 1  
cortisone reductase deficiency +   
cortisone reductase deficiency 1  
Craniofaciofrontodigital Syndrome 
craniolenticulosutural dysplasia  
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Cubitus Valgus with Mental Retardation and Unusual Facies 
Curatolo Cilio Pessagno Syndrome 
Cutis Verticis Gyrata and Mental Deficiency 
cystathioninuria  
cystic fibrosis +   
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
cystinosis +   
D-2-hydroxyglutaric aciduria 1  
D-glyceric aciduria  
Davis Lafer Syndrome 
De Sanctis-Cacchione Syndrome  
Deafness Hyperuricemia Neurologic Ataxia 
Deafness, Congenital Onychodystrophy, Recessive Form 
deafness-dystonia-optic neuronopathy syndrome  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
Diaminopentanuria 
diastrophic dysplasia +   
dicarboxylic aminoaciduria  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
Diets-Jongmans Syndrome  
dihydropyrimidinase deficiency  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
distal arthrogryposis type 5D  
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Transverse Limb Defects with Mental Retardation and Spasticity 
DNA ligase IV deficiency  
Donnai-Barrow syndrome  
Donohue syndrome  
DOORS syndrome  
Down syndrome +   
Dubowitz syndrome  
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave  
Duker Weiss Siber syndrome 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
dystonia 16  
dystonia 27  
dystonia 5  
early infantile epileptic encephalopathy 82  
early infantile epileptic encephalopathy 9  
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
EAST syndrome  
ectodermal dysplasia 10B  
ectodermal dysplasia 11B  
ectodermal dysplasia 13  
ectodermal dysplasia 14  
ectodermal dysplasia 15  
ectodermal dysplasia 4  
ectodermal dysplasia 5 
ectodermal dysplasia 6 
ectodermal dysplasia 7  
ectodermal dysplasia 8 
ectodermal dysplasia 9  
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
Ectodermal Dysplasia, Mental Retardation, Syndactyly 
ectopia lentis with ectopia of pupil  
Ehlers-Danlos syndrome cardiac valvular type  
Ehlers-Danlos syndrome classic-like 1  
Ehlers-Danlos syndrome classic-like 2  
Ehlers-Danlos syndrome dermatosparaxis type  
Ehlers-Danlos syndrome kyphoscoliotic type 1  
Ehlers-Danlos syndrome kyphoscoliotic type 2  
Ehlers-Danlos syndrome musculocontractural type 1  
Ehlers-Danlos syndrome musculocontractural type 2  
Ehlers-Danlos syndrome spondylodysplastic type 1  
Ehlers-Danlos syndrome spondylodysplastic type 2  
Eiken syndrome  
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Ellis-Van Creveld syndrome +   
Emanuel Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
endocrine-cerebro-osteodysplasia syndrome  
enhanced S-cone syndrome  
enterokinase deficiency  
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
Epilepsy Telangiectasia 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 4  
erythrokeratodermia variabilis et progressiva 5  
Erythrokeratodermia with Ataxia 
essential fructosuria  
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Faciocardiomelic Syndrome 
factor V deficiency +   
factor VII deficiency  
factor X deficiency  
factor XII deficiency  
factor XIII deficiency +   
Fallot Complex with Severe Mental and Growth Retardation 
familial adenomatous polyposis 2  
familial adenomatous polyposis 3  
familial adenomatous polyposis 4  
familial adult myoclonic epilepsy 5  
familial apolipoprotein C-II deficiency  
familial benign fleck retina  
Familial Convulsive Disorder with Prenatal or Early Onset 
familial erythrocytosis 2  
familial hemophagocytic lymphohistiocytosis 1 
familial hemophagocytic lymphohistiocytosis 2  
familial hemophagocytic lymphohistiocytosis 3  
familial hemophagocytic lymphohistiocytosis 4  
familial hepatic adenoma  
familial hypertryptophanemia  
familial isolated deficiency of vitamin E  
familial isolated trichomegaly  
familial lipase maturation factor 1 deficiency  
familial lipoprotein lipase deficiency +   
familial partial lipodystrophy type 5  
familial partial lipodystrophy type 6  
familial temporal lobe epilepsy 5  
Fanconi anemia complementation group A +   
Fanconi anemia complementation group C  
Fanconi anemia complementation group D1  
Fanconi anemia complementation group D2  
Fanconi anemia complementation group E  
Fanconi anemia complementation group I  
Fanconi anemia complementation group L  
Fanconi anemia complementation group O  
Fanconi anemia complementation group P  
Fanconi anemia complementation group Q  
Fanconi anemia complementation group T  
Fanconi anemia complementation group U  
Fanconi anemia complementation group V  
Fanconi renotubular syndrome 2  
Fanconi renotubular syndrome 5  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4  
fatal infantile hypertonic myofibrillar myopathy  
Fazio-Londe disease  
Feingold syndrome +   
Feingold Trainer Syndrome 
fetal akinesia deformation sequence syndrome 1  
fetal akinesia deformation sequence syndrome 2  
fetal akinesia deformation sequence syndrome 3  
fetal akinesia deformation sequence syndrome 4  
fetal encasement syndrome  
fibrochondrogenesis 1  
fibrochondrogenesis 2  
fibular hypoplasia and complex brachydactyly  
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Fitzsimmons Walson Mellor Syndrome 
Fitzsimmons-McLachlan-Gilbert syndrome 
Focal Epilepsy with Speech Disorder and with or without Mental Retardation  
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 9  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Frank-Ter Haar syndrome  
Fraser syndrome +   
Frontonasal Dysplasia 3  
Fuhrmann syndrome  
fumarase deficiency  
Gait Ataxia +   
galactose epimerase deficiency  
Galloway-Mowat syndrome +   
Galloway-Mowat syndrome 1  
Galloway-Mowat syndrome 3  
Galloway-Mowat syndrome 4  
gamma-glutamyl transpeptidase deficiency  
gangliosidosis +   
Garret Tripp Syndrome 
gelatinous drop-like corneal dystrophy  
geleophysic dysplasia 1  
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genitopatellar Syndrome  
geroderma osteodysplasticum  
giant axonal neuropathy 1  
Gillespie syndrome  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Gitelman syndrome  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
glucocorticoid deficiency 1  
glutamate formiminotransferase deficiency  
glutamate-cysteine ligase deficiency  
glutaric acidemia I  
Glycosylphosphatidylinositol Biosynthesis Defect 16  
GNE myopathy  
Goldberg-Shprintzen syndrome  
GOMBO Syndrome 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Gordon Holmes syndrome  
GRACILE syndrome  
gray platelet syndrome +   
Greenberg dysplasia  
Griscelli syndrome +   
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Gurrieri Sammito Bellussi Syndrome 
Hadziselimovic Syndrome 
Hair Defect with Photosensitivity and Mental Retardation 
Halal Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hamamy Syndrome  
Harel-Yoon Syndrome  
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Heimler syndrome 1  
Heimler syndrome 2  
hereditary arterial and articular multiple calcification syndrome +   
hereditary ataxia +   
hereditary folate malabsorption  
hereditary sensory and autonomic neuropathy type 2A  
hereditary sensory and autonomic neuropathy type 2B  
hereditary sensory and autonomic neuropathy type 5  
hereditary sensory and autonomic neuropathy type 6  
hereditary sensory and autonomic neuropathy type 8  
hereditary sensory neuropathy type 2C  
hereditary sensory neuropathy type 4  
hereditary spastic paraplegia 11  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 15  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 23  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 25 
hereditary spastic paraplegia 26  
hereditary spastic paraplegia 27 
hereditary spastic paraplegia 28  
hereditary spastic paraplegia 30  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 35  
hereditary spastic paraplegia 39  
hereditary spastic paraplegia 43  
hereditary spastic paraplegia 44  
hereditary spastic paraplegia 45  
hereditary spastic paraplegia 46  
hereditary spastic paraplegia 47  
hereditary spastic paraplegia 48  
hereditary spastic paraplegia 49  
hereditary spastic paraplegia 50  
hereditary spastic paraplegia 51  
hereditary spastic paraplegia 52  
hereditary spastic paraplegia 53  
hereditary spastic paraplegia 54  
hereditary spastic paraplegia 55  
hereditary spastic paraplegia 56  
hereditary spastic paraplegia 57  
hereditary spastic paraplegia 5A  
hereditary spastic paraplegia 61  
hereditary spastic paraplegia 62  
hereditary spastic paraplegia 63  
hereditary spastic paraplegia 64  
hereditary spastic paraplegia 7  
hereditary spastic paraplegia 72  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 9A  
hereditary spastic paraplegia 9B  
hereditary spherocytosis type 1  
hereditary spherocytosis type 3  
hereditary spherocytosis type 5  
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
high molecular weight kininogen deficiency  
high myopia-sensorineural deafness syndrome  
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Hoyeraal Hreidarsson Syndrome  
Hunter-McAlpine Syndrome 
hyaline fibromatosis syndrome  
hydrolethalus syndrome +   
Hydroxylysinuria 
hyper IgE recurrent infection syndrome 2  
hyper IgE recurrent infection syndrome 3  
hyper IgE recurrent infection syndrome 4  
hyperekplexia 1  
hyperekplexia 2  
hyperekplexia 3  
hyperekplexia 4  
Hyperleucine-Isoleucinemia 
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 
Hyperphosphatasia with Mental Retardation +   
hyperphosphatemic familial tumoral calcinosis +   
hyperprolinemia type 1  
hyperprolinemia type 2  
hypertelorism, microtia, facial clefting syndrome 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypogonadotropic hypogonadism 10 with or without anosmia  
hypogonadotropic hypogonadism 11 with or without anosmia  
hypogonadotropic hypogonadism 12 with or without anosmia  
hypogonadotropic hypogonadism 13 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 22 with or without anosmia  
hypogonadotropic hypogonadism 23 with or without anosmia  
hypogonadotropic hypogonadism 24 without anosmia  
hypogonadotropic hypogonadism 7 with or without anosmia  
hypogonadotropic hypogonadism 8 with or without anosmia  
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
Hypomagnesemia, Seizures, and Mental Retardation +   
hypomyelinating leukodystrophy 10  
hypomyelinating leukodystrophy 11  
hypomyelinating leukodystrophy 12  
hypomyelinating leukodystrophy 13  
hypomyelinating leukodystrophy 14  
Hypomyelinating Leukodystrophy 18  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 9  
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypospadias-Mental Retardation Syndrome 
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
hypotonia-cystinuria syndrome  
hypotrichosis 10 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
hypotrichosis-lymphedema-telangiectasia syndrome +   
Ichthyosis and Male Hypogonadism 
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
immunodeficiency 10  
immunodeficiency 11A  
immunodeficiency 12  
immunodeficiency 15B  
immunodeficiency 16  
immunodeficiency 17  
immunodeficiency 18  
immunodeficiency 19  
immunodeficiency 20  
immunodeficiency 22  
immunodeficiency 23  
immunodeficiency 24  
immunodeficiency 25  
immunodeficiency 26  
immunodeficiency 27A  
immunodeficiency 28  
immunodeficiency 29  
immunodeficiency 30  
immunodeficiency 31B  
immunodeficiency 32B  
immunodeficiency 35  
immunodeficiency 37  
immunodeficiency 38  
immunodeficiency 40  
immunodeficiency 41  
immunodeficiency 42  
immunodeficiency 43  
immunodeficiency 44  
immunodeficiency 45  
immunodeficiency 46  
immunodeficiency 48  
immunodeficiency 51  
immunodeficiency 52  
immunodeficiency 53  
immunodeficiency 54  
immunodeficiency 55  
immunodeficiency 56  
immunodeficiency 57  
immunodeficiency 58  
immunodeficiency 59  
immunodeficiency 61  
immunodeficiency 62  
immunodeficiency 63  
immunodeficiency 64  
immunodeficiency 65  
immunodeficiency 66  
immunodeficiency 69  
immunodeficiency 7  
immunodeficiency 71  
immunodeficiency 9  
immunodeficiency with hyper IgM type 3  
immunodeficiency with hyper IgM type 5  
immunodeficiency with hyper-IgM type 2  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin alpha deficiency +   
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
infantile cerebellar-retinal degeneration  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Infantile Hypotonia with Psychomotor Retardation +   
infantile liver failure syndrome 1  
Infantile Multisystem Neurologic Disease with Osseous Fragility 
inflammatory bowel disease 25  
inflammatory bowel disease 28  
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS  
intellectual developmental disorder with short stature and behavioral abnormalities  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
intermediate spinal muscular atrophy  
isolated cleft palate  
isolated hyperchlorhidrosis  
isolated microphthalmia 1 
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 5  
isolated microphthalmia 6  
isolated microphthalmia 8  
isolated sulfite oxidase deficiency  
Jackson-Weiss syndrome  
Jagell Holmgren Hofer Syndrome 
Jalili syndrome  
JMP syndrome  
Johanson-Blizzard syndrome  
Jorgenson Lenz Syndrome 
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 7  
Joubert syndrome 9  
Juberg Hayward Syndrome  
junctional epidermolysis bullosa Herlitz type  
junctional epidermolysis bullosa non-Herlitz type +   
junctional epidermolysis bullosa with pyloric atresia  
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Kapur Toriello Syndrome 
Karandikar Maria Kamble Syndrome 
karyomegalic interstitial nephritis  
Kat6a Syndrome  
Katsantoni Papadakou Lagoyanni Syndrome 
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Kenny-Caffey syndrome type 1  
Keppen-Lubinsky Syndrome  
keratosis pilaris atrophicans +   
Khalifa Graham Syndrome 
Kleefstra syndrome +   
Klippel-Feil syndrome 2  
Klippel-Feil syndrome 4  
Kohlschutter-Tonz syndrome  
Koone Rizzo Elias Syndrome 
Kosztolanyi Syndrome 
Kozlowski Ouvrier Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Kufor-Rakeb syndrome  
Kuzniecky Andermann Syndrome 
Lafora disease  
Lambert Syndrome 
Lambotte Syndrome 
Laron syndrome  
Larsen-like syndrome B3GAT3 type  
late-adult onset retinitis pigmentosa 
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 
Laurence-Moon syndrome  
Leber congenital amaurosis 1  
Leber congenital amaurosis 12  
Leber congenital amaurosis 13  
Leber congenital amaurosis 14  
Leber congenital amaurosis 15  
Leber congenital amaurosis 16  
Leber congenital amaurosis 17  
Leber congenital amaurosis 2  
Leber congenital amaurosis 4  
Leber congenital amaurosis 5  
Leber congenital amaurosis 6  
Leber congenital amaurosis 8  
Leber congenital amaurosis 9  
Lenz-Majewski hyperostotic dwarfism  
lethal congenital contracture syndrome +   
lethal restrictive dermopathy  
leukocyte adhesion deficiency +   
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Leukoencephalomyelopathy  
Leukoencephalopathy with Ataxia  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Liberfarb Syndrome  
Light Fixation Seizure Syndrome 
linear skin defects with multiple congenital anomalies 2  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lubani Al Saleh Teebi Syndrome 
Luscan-Lumish syndrome  
lymphoproliferative syndrome 1  
lymphoproliferative syndrome 2  
Lynch Lee Murday syndrome 
MacDermot Winter Syndrome 
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Mandibulofacial Dysostosis with Mental Deficiency  
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Marfanoid Mental Retardation Syndrome, Autosomal  
Marinesco-Sjogren syndrome  
Martsolf syndrome  
MASA syndrome  
McDonough Syndrome 
McKusick-Kaufman syndrome  
megaconial type congenital muscular dystrophy  
megalencephalic leukoencephalopathy with subcortical cysts 1  
megalencephalic leukoencephalopathy with subcortical cysts 2A  
megalencephalic leukoencephalopathy with subcortical cysts 2B  
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
MEHMO syndrome  
Meier-Gorlin syndrome 1  
Meier-Gorlin syndrome 2  
Meier-Gorlin syndrome 3  
Meier-Gorlin syndrome 4  
Meier-Gorlin syndrome 5  
Meier-Gorlin syndrome 7  
Meier-Gorlin syndrome 8  
MEND syndrome  
Menke-Hennekam Syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation Associated with Psoriasis 
Mental Retardation Mietens Weber Type 
Mental Retardation Smith Fineman Myers Type 
Mental Retardation Spasticity Ectrodactyly 
Mental Retardation Syndrome, Belgian Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation with Spastic Paraplegia 
Mental Retardation Wolff Type 
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS  
Mental Retardation, Autosomal Recessive 8 
Mental Retardation, Buenos Aires Type 
Mental Retardation, Fra12a Type  
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
metatropic dysplasia  
Methionine Malabsorption Syndrome 
Microcephalic Osteodysplastic Primordial Dwarfism +   
microcephalic osteodysplastic primordial dwarfism type I  
microcephalic osteodysplastic primordial dwarfism type II  
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
microcephaly and chorioretinopathy 1  
microcephaly and chorioretinopathy 2  
microcephaly and chorioretinopathy 3  
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Microphthalmos Blindness 
Microcephaly Nonsyndromal 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly with Simplified Gyral Pattern 
Microcephaly with Spastic Quadriplegia  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
microphthalmia with limb anomalies  
microvillus inclusion disease  
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
mitochondrial DNA depletion syndrome 1  
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 15  
mitochondrial DNA depletion syndrome 2  
mitochondrial DNA depletion syndrome 3  
mitochondrial DNA depletion syndrome 4B  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 6  
mitochondrial DNA depletion syndrome 8A  
mitochondrial DNA depletion syndrome 8b  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
Mitochondrial Myopathy, and Ataxia  
mitochondrial pyruvate carrier deficiency  
mitochondrial trifunctional protein deficiency  
Miyoshi muscular dystrophy 1  
Miyoshi muscular dystrophy 3  
Mollica Pavone Antener Syndrome 
MOMES Syndrome 
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
mosaic variegated aneuploidy syndrome 1  
mosaic variegated aneuploidy syndrome 2  
mosaic variegated aneuploidy syndrome 3  
Mowat-Wilson syndrome  
mucolipidosis III alpha/beta +   
mucolipidosis III gamma  
mucopolysaccharidosis Ih  
mucopolysaccharidosis Ih/s  
mucopolysaccharidosis IVA  
mucopolysaccharidosis type IIIA  
mucopolysaccharidosis type IIIB  
mucopolysaccharidosis type IIIC  
mucopolysaccharidosis type IIID  
mucopolysaccharidosis type IVB  
mucosulfatidosis  
mulibrey nanism  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
multiple epiphyseal dysplasia 4  
multiple epiphyseal dysplasia 7  
multiple intestinal atresia  
multiple mitochondrial dysfunctions syndrome 1  
multiple mitochondrial dysfunctions syndrome 2  
multiple mitochondrial dysfunctions syndrome 3  
multiple mitochondrial dysfunctions syndrome 4  
multiple mitochondrial dysfunctions syndrome 5  
multiple mitochondrial dysfunctions syndrome 6  
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
muscular dystrophy-dystroglycanopathy +   
Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3  
muscular dystrophy-dystroglycanopathy type B5  
muscular dystrophy-dystroglycanopathy type B6  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
Myokymia 1  
myopathy with extrapyramidal signs  
Myotonia with Skeletal Abnormalities and Mental Retardation 
N syndrome 
Nabais Sa-de Vries Syndrome, Type 1  
Native American myopathy  
nemaline myopathy 1  
nemaline myopathy 10  
nemaline myopathy 11  
nemaline myopathy 2  
nemaline myopathy 3  
nemaline myopathy 5  
nemaline myopathy 7  
nemaline myopathy 8  
nemaline myopathy 9  
neonatal diabetes mellitus with congenital hypothyroidism  
neonatal-onset type II citrullinemia  
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
nephronophthisis +   
nephrotic syndrome type 1  
nephrotic syndrome type 10  
nephrotic syndrome type 11  
nephrotic syndrome type 12  
nephrotic syndrome type 13  
nephrotic syndrome type 14  
nephrotic syndrome type 15  
nephrotic syndrome type 16  
nephrotic syndrome type 17  
nephrotic syndrome type 18  
nephrotic syndrome type 19  
nephrotic syndrome type 2  
nephrotic syndrome type 3  
nephrotic syndrome type 5  
nephrotic syndrome type 6  
nephrotic syndrome type 7  
nephrotic syndrome type 8  
nephrotic syndrome type 9  
Neu-Laxova syndrome 1  
Neuhauser Syndrome 
neurodegeneration with brain iron accumulation 2A  
neurodegeneration with brain iron accumulation 2B  
neurodegeneration with brain iron accumulation 4  
neurodegeneration with brain iron accumulation 6  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
neurodevelopmental disorder with midbrain and hindbrain malformations  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
Neurofaciodigitorenal Syndrome 
neurogenic arthrogryposis multiplex congenita +   
Nezelof syndrome 
NF1 Microduplication Syndrome 
NGLY1-deficiency  
Nicolaides Baraitser Syndrome  
Nijmegen breakage syndrome +   
Nijmegen Breakage Syndrome-Like Disorder  
non-syndromic intellectual disability +   
nonphotosensitive trichothiodystrophy +   
nonphotosensitive trichothiodystrophy 4  
nonphotosensitive trichothiodystrophy 6  
nonphotosensitive trichothiodystrophy 7  
nonprogressive cerebellar ataxia with mental retardation  
nonsyndromic congenital nail disorder 3  
nonsyndromic congenital nail disorder 4  
nonsyndromic congenital nail disorder 9  
Noonan syndrome 2  
Norman-Roberts syndrome  
oculocutaneous albinism +   
Oculopalatocerebral Syndrome 
Oguchi disease-1  
Oguchi disease-2  
Ohdo syndrome +   
Okur-Chung Neurodevelopmental Syndrome  
Oliver Syndrome 
Oliver-McFarlane syndrome  
Onychotrichodysplasia and Neutropenia 
optic atrophy 10  
optic atrophy 11  
optic atrophy 6 
optic atrophy 7  
optic atrophy 9  
optic disc anomalies with retinal and/or macular dystrophy  
orofacial cleft 14 
orofacial cleft 7 +   
orofaciodigital syndrome V  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
osteogenesis imperfecta type 10  
osteogenesis imperfecta type 11  
osteogenesis imperfecta type 12  
osteogenesis imperfecta type 13  
osteogenesis imperfecta type 15  
osteogenesis imperfecta type 17  
osteogenesis imperfecta type 18  
osteogenesis imperfecta type 20  
osteogenesis imperfecta type 7  
osteogenesis imperfecta type 8  
osteogenesis imperfecta type 9  
Osteolysis Syndrome, Recessive 
osteoporosis-pseudoglioma syndrome  
otospondylomegaepiphyseal dysplasia, autosomal recessive  
otulipenia  
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Paine Syndrome 
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
pantothenate kinase-associated neurodegeneration +   
Papillon-Lefevre disease +   
parastremmatic dwarfism  
Parkinson's disease 14  
Parkinson's disease 15  
Parkinson's disease 19A  
Parkinson's disease 2  
Parkinson's disease 20  
Parkinson's disease 23  
Parkinson's disease 6  
Parkinson's disease 7  
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Partington Anderson Syndrome 
Partington syndrome  
Pashayan Syndrome 
Patella Hypoplasia Mental Retardation 
Pavone Fiumara Rizzo Syndrome 
Pendred syndrome  
pentosuria  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
Perisylvian Syndrome +   
permanent neonatal diabetes mellitus +   
Perniola Krajewska Carnevale Syndrome 
peroxisome biogenesis disorder 2B  
Perrault syndrome +   
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Tietze Welte Syndrome 
PHARC syndrome  
PHGDH deficiency  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
photosensitive trichothiodystrophy 1  
photosensitive trichothiodystrophy 2  
photosensitive trichothiodystrophy 3  
Pierson syndrome  
Pilotto Syndrome 
Pitt-Hopkins syndrome +   
Pitt-Hopkins-like syndrome 2  
Piussan Lenaerts Mathieu syndrome 
plasminogen deficiency type I  
platelet-type bleeding disorder 10  
platelet-type bleeding disorder 11  
platelet-type bleeding disorder 18  
platelet-type bleeding disorder 19  
platelet-type bleeding disorder 8  
poikiloderma with neutropenia  
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
porencephaly +   
postaxial acrofacial dysostosis  
Posterior Column Ataxia with Retinitis Pigmentosa  
Prader-Willi syndrome +   
primary autosomal recessive microcephaly +   
primary ciliary dyskinesia 38  
primary ciliary dyskinesia 39  
primary ciliary dyskinesia 40  
primary ciliary dyskinesia 41  
primary ciliary dyskinesia 42  
primary ciliary dyskinesia 44  
primary ciliary dyskinesia 45  
primary microcephaly +   
Primrose Syndrome  
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive +   
progressive familial intrahepatic cholestasis 1  
progressive familial intrahepatic cholestasis 2  
progressive familial intrahepatic cholestasis 3  
progressive familial intrahepatic cholestasis 4  
progressive familial intrahepatic cholestasis 5  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
progressive myoclonus epilepsy 10  
progressive myoclonus epilepsy 1A  
progressive myoclonus epilepsy 1B  
progressive myoclonus epilepsy 3  
progressive myoclonus epilepsy 4  
progressive myoclonus epilepsy 6  
progressive myoclonus epilepsy 8  
progressive myoclonus epilepsy 9  
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
progressive pseudorheumatoid arthropathy of childhood  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
prolidase deficiency  
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome  
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
proprotein convertase 1/3 deficiency  
prothrombin deficiency +   
Proud Syndrome  
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation  
prune belly syndrome +   
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
PSAT deficiency  
pseudo-TORCH syndrome 1  
Pseudoaminopterin Syndrome 
Pseudouridinuria and Mental Defect 
pseudoxanthoma elasticum +   
purine nucleoside phosphorylase deficiency  
pycnodysostosis  
pyruvate kinase deficiency of red cells  
Qazi Markouizos syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rahman Syndrome  
Raine Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
rapadilino syndrome  
Reardon Wilson Cavanagh Syndrome 
recessive dystrophic epidermolysis bullosa  
reticular dysgenesis  
retinitis pigmentosa 1  
retinitis pigmentosa 12  
retinitis pigmentosa 14  
retinitis pigmentosa 19  
retinitis pigmentosa 20  
retinitis pigmentosa 25  
retinitis pigmentosa 26  
retinitis pigmentosa 28  
retinitis pigmentosa 29 
retinitis pigmentosa 35  
retinitis pigmentosa 37  
retinitis pigmentosa 38  
retinitis pigmentosa 4  
retinitis pigmentosa 40  
retinitis pigmentosa 41  
retinitis pigmentosa 45  
retinitis pigmentosa 50  
retinitis pigmentosa 56  
retinitis pigmentosa 57  
retinitis pigmentosa 59  
retinitis pigmentosa 62  
retinitis pigmentosa 68  
retinitis pigmentosa 69  
retinitis pigmentosa 7  
retinitis pigmentosa 71  
retinitis pigmentosa 72  
retinitis pigmentosa 73  
retinitis pigmentosa 74  
retinitis pigmentosa 75  
retinitis pigmentosa 77  
retinitis pigmentosa with or without situs inversus  
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
rhizomelic chondrodysplasia punctata +   
Richards-Rundle Syndrome 
Riddle syndrome  
right atrial isomerism  
rigid spine muscular dystrophy 1  
Ritscher-Schinzel syndrome 1  
Ritscher-Schinzel syndrome 2  
Roberts syndrome  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome  
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Ruijs-Aalfs syndrome  
Ruzicka Goerz Anton syndrome 
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
Sao Paulo MCA/MR Syndrome 
SATB2-associated syndrome  
Say Barber Miller Syndrome 
Say Syndrome 
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schimke immuno-osseous dysplasia  
Schimke X-Linked Mental Retardation Syndrome 
Schinzel-Giedion Syndrome  
Schofer Beetz Bohl Syndrome 
Scholte Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Schwartz-Jampel syndrome 1  
Sclerosing Bone Dysplasia Mental Retardation 
sclerosteosis 1  
sclerosteosis 2  
Seckel syndrome +   
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
Seizures, Cortical Blindness, and Microcephaly Syndrome  
Sengers syndrome  
Senior-Loken syndrome +   
Sensenbrenner syndrome +   
Sensory Ataxia, Autosomal Dominant  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
sepiapterin reductase deficiency  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
severe combined immunodeficiency with sensitivity to ionizing radiation  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive  
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Shaheen Syndrome  
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
sickle cell anemia +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Silverman-Handmaker type dyssegmental dysplasia  
Simpson-Golabi-Behmel syndrome type 1  
Singh Chhaparwal Dhanda Syndrome 
sitosterolemia +   
Sjogren-Larsson syndrome +   
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Sketetal Dysplasia Coarse Facies Mental Retardation  
Smith-Kingsmore Syndrome  
Snijders Blok-Campeau Syndrome  
SOST-related sclerosing bone dysplasia  
Sotos syndrome +   
spastic ataxia +   
Spastic Ataxia with Congenital Miosis 
Spastic Diplegia Infantile Type 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spastic Paraplegia, Epilepsy, Mental Retardation 
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY  
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spastic Paresis, Glaucoma, and Mental Retardation 
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly  
spermatogenic failure 13  
spermatogenic failure 14  
spermatogenic failure 15  
spermatogenic failure 16  
spermatogenic failure 17  
spermatogenic failure 18  
spermatogenic failure 19  
spermatogenic failure 20  
spermatogenic failure 21  
spermatogenic failure 22  
spermatogenic failure 23  
spermatogenic failure 24  
spermatogenic failure 25  
spermatogenic failure 26  
spermatogenic failure 27  
spermatogenic failure 28  
spermatogenic failure 29  
spermatogenic failure 30  
spermatogenic failure 31  
spermatogenic failure 33  
spermatogenic failure 34  
spermatogenic failure 35  
spermatogenic failure 37  
spermatogenic failure 38  
spermatogenic failure 39  
spermatogenic failure 40  
spermatogenic failure 41  
spermatogenic failure 42  
spermatogenic failure 43  
spermatogenic failure 5  
spermatogenic failure 6  
spermatogenic failure 7  
spermatogenic failure 9  
Spinal Muscular Atrophy with Mental Retardation 
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
spinal muscular atrophy with progressive myoclonic epilepsy  
Spinocerebellar Ataxias +   
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 6  
SPOAN syndrome  
spondylocarpotarsal synostosis syndrome  
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 
Spondyloepimetaphyseal Dysplasia with Hypotrichosis 
Spondyloepimetaphyseal Dysplasia with Joint Laxity +   
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. (DO)
Spondyloepimetaphyseal Dysplasia, Irapa Type 
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type  
Spondyloepimetaphyseal Dysplasia, Krakow Type  
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related  
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Pakistani type  
Spondyloepimetaphyseal Dysplasia, Shohat Type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
spondyloepimetaphyseal dysplasia, Strudwick type  
Spondyloepimetaphyseal Dysplasia, X-Linked  
spondyloepiphyseal dysplasia congenita  
spondyloepiphyseal dysplasia tarda +   
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 
spondyloepiphyseal dysplasia with congenital joint dislocations  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Stevenson-Carey Syndrome 
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Stromme syndrome  
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS  
Sucrosuria, Hiatus Hernia and Mental Retardation 
Supernumerary Der(22)t(8 
syndromic intellectual disability +   
syndromic microphthalmia 13  
syndromic microphthalmia 8  
syndromic microphthalmia 9  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
Tapetoretinal Degeneration with Ataxia 
Tatton-Brown-Rahman Syndrome  
Teebi Kaurah Syndrome 
Tel Hashomer Camptodactyly Syndrome 
Temple-Baraitser syndrome  
temtamy preaxial brachydactyly syndrome  
Temtamy syndrome  
Tenorio Syndrome  
Tetrasomy X 
thalassemia +   
THAUVIN-ROBINET-FAIVRE SYNDROME  
thiamine-responsive megaloblastic anemia syndrome  
thrombocytopenia-absent radius syndrome  
Tolchin-Le Caignec Syndrome  
Tonoki Syndrome 
torsion dystonia 17 
torsion dystonia 2  
Total Anonychia with Microcephaly 
transient bullous dermolysis of the newborn  
Treft Sanborn Carey Syndrome 
Tremor of Intention, Ataxia, and Lipofuscinosis 
Trichodental Syndrome 
trichohepatoenteric syndrome +   
trimethylaminuria  
triple-A syndrome  
Troyer syndrome  
Tryptophanuria with Dwarfism 
Tsukahara Syndrome  
Ullrich congenital muscular dystrophy +   
Ulnar Hypoplasia with Mental Retardation 
Upton Young Syndrome 
urofacial syndrome +   
Usher syndrome +   
UV-sensitive syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
Van Bogaert-Hozay Syndrome 
Van Den Bosch Syndrome 
Van den Ende-Gupta syndrome  
Van Maldergem syndrome +   
Vasquez Hurst Sotos Syndrome 
ventriculomegaly - cystic kidney disease  
Verloes Gillerot Fryns Syndrome 
VERVERI-BRADY SYNDROME  
Vici syndrome  
Viljoen Kallis Voges Syndrome 
visual impairment and progressive phthisis bulbi  
Volcke Soekarman Syndrome 
WAGR syndrome +   
Waisman syndrome  
Walker Dyson Syndrome 
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Warsaw breakage syndrome  
Webb-Dattani Syndrome  
Werner syndrome +   
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Williams-Beuren syndrome +   
Winship Viljoen Leary Syndrome 
Wolcott-Rallison syndrome  
Wolfram syndrome 1  
Wolfram syndrome 2  
Woodhouse-Sakati Syndrome  
Worster-Drought Syndrome  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   
xeroderma pigmentosum +   
XFE progeroid syndrome  
Yorifuji Okuno Syndrome 
Young Hughes Syndrome 
Yunis-Varon syndrome  
Zazam Sheriff Phillips Syndrome 
Zechi-Ceide Syndrome 
Zerres Rietschel Majewski Syndrome 
ZTTK Syndrome  
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: NANS deficiency ;   SEMD, Genevieve type ;   SEMDG
Primary IDs: MESH:C535785
Alternate IDs: OMIM:610442
Xrefs: GARD:10057 ;   ORDO:168454
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/27213289 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.