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Ontology Browser

Term:
dicarboxylic aminoaciduria (DOID:0060650)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
16p11.2 Deletion Syndrome  
2-aminoadipic 2-oxoadipic aciduria  
2-hydroxyglutaric aciduria +   
2-Methylacetoacetyl CoA Thiolase Deficiency 
2-Methylbutyryl-CoA Dehydrogenase Deficiency  
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  
3-Hydroxyisobutyric 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 +   
46,XY sex reversal 5  
46,XY sex reversal 7  
46,XY sex reversal 8  
5-Oxoprolinase Deficiency  
ABCD syndrome  
abetalipoproteinemia +   
Absent Eyebrows and Eyelashes with Mental Retardation 
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 +  
Adams Nance Syndrome 
adenine phosphoribosyltransferase deficiency  
adenylosuccinase lyase deficiency  
adult spinal muscular atrophy  
agammaglobulinemia 4  
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  
Albinism +   
alkaptonuria +   
Alkuraya-Kucinskas syndrome  
Alopecia Contractures Dwarfism Mental Retardation 
alopecia universalis +   
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome  
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
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  
Alpha-Ketoglutarate Dehydrogenase 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 
Aminoacylase 1 Deficiency  
AMME complex  
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
Amyotrophic Dystonic Paraplegia 
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 
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
Arakawa Syndrome 2 
ARC syndrome +   
argininosuccinic aciduria  
aromatic L-amino acid decarboxylase deficiency  
arrhythmogenic right ventricular dysplasia 11  
Arthrogryposis, Mental Retardation, and Seizures  
Asparagine Synthetase Deficiency  
asphyxiating thoracic dystrophy 1  
asphyxiating thoracic dystrophy 2  
asphyxiating thoracic dystrophy 3  
asphyxiating thoracic dystrophy 4  
asphyxiating thoracic dystrophy 5  
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Athabaskan brainstem dysgenesis syndrome  
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 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 craniometaphyseal dysplasia  
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  
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Bardet-Biedl syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Behr syndrome  
Bellini Chiumello Rimoldi Syndrome 
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
Bernard-Soulier syndrome +   
Beta-Aminoisobutyric Acid, Urinary Excretion of  
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
beta-ketothiolase deficiency  
BH4-deficient hyperphenylalaninemia A  
Biemond Syndrome II 
Birk-Barel syndrome  
Bjornstad syndrome  
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Bloom syndrome  
Blue Diaper Syndrome 
Bohring Syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boucher-Neuhauser syndrome  
Boudhina Yedes Khiari syndrome 
Bowen-Conradi syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
brachyolmia-amelogenesis imperfecta syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
Bresheck/Bresek Syndrome 
brittle cornea syndrome 1  
brittle cornea syndrome 2  
Brown-Vialetto-Van Laere syndrome 1  
Brown-Vialetto-Van Laere syndrome 2  
Brunner syndrome  
Bullous Dystrophy, Hereditary Macular Type 
C syndrome  
CAHMR Syndrome 
Camera Marugo Cohen Syndrome 
Camptodactyly Taurinuria 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Canavan disease  
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
carbamoyl phosphate synthetase I deficiency disease  
carboxypeptidase N deficiency  
carnitine-acylcarnitine translocase deficiency  
cartilage-hair hypoplasia  
Cartwright Nelson Fryns Syndrome 
cataract 11 multiple types +   
cataract 13 with adult i phenotype  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 18  
cataract 19 multiple types  
cataract 22 multiple types  
cataract 33  
cataract 35 
cataract 36  
cataract 38  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
cataract 48  
cataract 9 multiple types  
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 creatine deficiency syndrome +   
Cerebral Visual Impairment and Intellectual Disability  
cerebrocostomandibular syndrome  
Cerebrofaciothoracic Dysplasia  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
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 +   
CHIME syndrome  
choreaacanthocytosis  
Choroid Plexus Calcification with Mental Retardation 
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 
classic galactosemia  
cleft lip-palate-ectodermal dysplasia syndrome  
COACH syndrome  
Cochlear Deafness with Myopia and Intellectual Impairment 
Cockayne syndrome +   
CODAS syndrome  
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 40  
combined oxidative phosphorylation deficiency 41  
combined oxidative phosphorylation deficiency 42  
combined oxidative phosphorylation deficiency 43  
combined oxidative phosphorylation deficiency 45  
combined oxidative phosphorylation deficiency 46  
combined oxidative phosphorylation deficiency 47  
combined oxidative phosphorylation deficiency 48  
combined oxidative phosphorylation deficiency 49  
combined oxidative phosphorylation deficiency 5  
combined oxidative phosphorylation deficiency 50  
combined oxidative phosphorylation deficiency 51  
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 +   
corpus callosum agenesis-abnormal genitalia syndrome  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
cortical dysplasia-focal epilepsy syndrome  
corticosterone methyloxidase deficiency 1  
cortisone reductase deficiency 1  
cranioectodermal dysplasia +   
Craniofaciofrontodigital Syndrome 
craniolenticulosutural dysplasia  
Craniosynostosis Mental Retardation Clefting Syndrome 
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  
Cysteine Peptiduria 
cystic fibrosis +   
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
cystinosis +   
cystinuria +   
D-2-hydroxyglutaric aciduria 1  
D-glyceric aciduria  
Davis Lafer Syndrome 
De Sanctis-Cacchione Syndrome  
Deafness, Congenital Onychodystrophy, Recessive Form 
deafness-dystonia-optic neuronopathy syndrome  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
Diaminopentanuria 
diastrophic dysplasia +   
Dibasic Amino Aciduria I 
dicarboxylic aminoaciduria  
An amino acid metabolic disorder that is characterised by an excess urinary excretion of aspartate and glutamate acidic amino acids. (DO)
Diets-Jongmans Syndrome  
dihydropyrimidinase deficiency  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
Dimethylglycine Dehydrogenase Deficiency  
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  
early-onset vitamin B6-dependent epilepsy  
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-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  
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 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  
Fountain Syndrome 
Frank-Ter Haar syndrome  
Fraser syndrome +   
Frontonasal Dysplasia 3  
Fuhrmann syndrome  
fumarase deficiency  
GABA aminotransferase deficiency  
galactose epimerase deficiency  
Galloway-Mowat syndrome +   
Galloway-Mowat syndrome 1  
Galloway-Mowat syndrome 3  
Galloway-Mowat syndrome 4  
gamma-amino butyric acid metabolism disorder +   
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  
Glucoglycinuria  
glutamate formiminotransferase deficiency  
Glutamate Monosodium Sensitivity 
glutamate-cysteine ligase deficiency  
Glutamine Deficiency, Congenital  
glutaric acidemia I  
Glutaric Aciduria +   
glutathione synthetase deficiency  
glycine encephalopathy +   
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE  
Glycinuria with or without Oxalate Urolithiasis  
Glycosylphosphatidylinositol Biosynthesis Defect 16  
GNE myopathy  
Goldberg-Shprintzen 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 
Hair Defect with Photosensitivity and Mental Retardation 
Hall Riggs Mental Retardation Syndrome 
Hamamy Syndrome  
Harel-Yoon Syndrome  
Harrod Doman Keele Syndrome 
Hartnup disease  
Haspeslagh Fryns Muelenaere Syndrome 
Heimler syndrome 1  
Heimler syndrome 2  
hereditary arterial and articular multiple calcification syndrome +   
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  
high molecular weight kininogen deficiency  
high myopia-sensorineural deafness syndrome  
histidine metabolism disease +   
histidinemia  
Histidinuria, Renal Tubular Defect 
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
homocystinuria +   
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Hoyeraal Hreidarsson Syndrome  
Hunter-McAlpine Syndrome 
hyaline fibromatosis syndrome  
hydrolethalus syndrome +   
Hydroxykynureninuria  
Hydroxylysinuria 
Hydroxyprolinemia 
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  
hyperhomocysteinemia +   
Hyperleucine-Isoleucinemia 
hyperlysinemia +   
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 
hypermethioninemia +   
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatasia with Mental Retardation +   
hyperphosphatemic familial tumoral calcinosis +   
hyperprolinemia +   
hyperprolinemia type 1  
hyperprolinemia type 2  
Hypertaurinuric Cardiomyopathy 
hypertelorism, microtia, facial clefting syndrome 
Hypertryptophanemia +   
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-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, Split Hairs, and Amino Aciduria 
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 72  
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia  
immunodeficiency 9  
immunodeficiency with hyper IgM type 3  
immunodeficiency with hyper IgM type 5  
immunodeficiency with hyper-IgM type 2  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
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 Seizures and Language Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS  
intellectual developmental disorder with short stature and behavioral abnormalities  
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 
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  
Isobutyryl-CoA Dehydrogenase Deficiency  
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  
isovaleric acidemia  
Jackson-Weiss syndrome  
Jagell Holmgren Hofer Syndrome 
Jalili syndrome  
JMP syndrome  
Johanson-Blizzard syndrome  
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 7  
Joubert syndrome 9  
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 +   
Ketoadipicaciduria 
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 
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 +   
Leukoencephalomyelopathy  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Light Fixation Seizure Syndrome 
Lissencephaly 3 +   
Lissencephaly 4  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lubani Al Saleh Teebi Syndrome 
Luscan-Lumish syndrome  
lymphoproliferative syndrome 1  
lymphoproliferative syndrome 2  
Lynch Lee Murday syndrome 
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Maleylacetoacetate Isomerase Deficiency  
Mandibulofacial Dysostosis with Mental Deficiency  
mandibulofacial dysostosis, Guion-Almeida type  
maple syrup urine disease +   
Marfanoid Mental Retardation Syndrome, Autosomal  
Marinesco-Sjogren syndrome  
Martsolf syndrome  
MASA syndrome  
McDonough Syndrome 
McKusick-Kaufman syndrome  
Meckel syndrome 13  
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  
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, 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 +   
Mercaptolactate-Cysteine Disulfiduria 
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
Methionine Malabsorption Syndrome 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
methylmalonic acidemia +   
Methylmalonyl-CoA Epimerase Deficiency +   
microcephalic osteodysplastic primordial dwarfism type I  
microcephalic osteodysplastic primordial dwarfism type II  
Microcephalic Primordial Dwarfism Toriello Type 
microcephaly and chorioretinopathy 1  
microcephaly and chorioretinopathy 2  
microcephaly and chorioretinopathy 3  
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Macrotia, and Mental Retardation 
Microphthalmia and Mental Deficiency 
microphthalmia with limb anomalies  
microvillus inclusion disease  
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 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  
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
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 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 10  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
Myopathy due to Malate-Aspartate Shuttle Defect 
myopathy with extrapyramidal signs  
Myotonia with Skeletal Abnormalities and Mental Retardation 
N syndrome 
N-Acetylaspartate Deficiency  
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  
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  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
neurodevelopmental disorder with midbrain and hindbrain malformations  
Neurofaciodigitorenal Syndrome 
neurogenic arthrogryposis multiplex congenita +   
Nezelof syndrome 
NF1 Microduplication Syndrome 
NGLY1-deficiency  
Nicolaides Baraitser Syndrome  
Nijmegen breakage syndrome +   
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  
nuclear type mitochondrial complex I deficiency 1  
nuclear type mitochondrial complex I deficiency 10  
nuclear type mitochondrial complex I deficiency 11  
nuclear type mitochondrial complex I deficiency 13  
nuclear type mitochondrial complex I deficiency 14  
nuclear type mitochondrial complex I deficiency 15  
nuclear type mitochondrial complex I deficiency 16  
nuclear type mitochondrial complex I deficiency 17  
nuclear type mitochondrial complex I deficiency 18  
nuclear type mitochondrial complex I deficiency 19  
nuclear type mitochondrial complex I deficiency 2  
nuclear type mitochondrial complex I deficiency 20  
nuclear type mitochondrial complex I deficiency 21  
nuclear type mitochondrial complex I deficiency 22  
nuclear type mitochondrial complex I deficiency 23  
nuclear type mitochondrial complex I deficiency 24  
nuclear type mitochondrial complex I deficiency 25  
nuclear type mitochondrial complex I deficiency 26  
nuclear type mitochondrial complex I deficiency 27  
nuclear type mitochondrial complex I deficiency 28  
nuclear type mitochondrial complex I deficiency 29  
nuclear type mitochondrial complex I deficiency 3  
nuclear type mitochondrial complex I deficiency 31  
nuclear type mitochondrial complex I deficiency 32  
nuclear type mitochondrial complex I deficiency 33  
nuclear type mitochondrial complex I deficiency 34  
nuclear type mitochondrial complex I deficiency 35  
nuclear type mitochondrial complex I deficiency 4  
nuclear type mitochondrial complex I deficiency 5  
nuclear type mitochondrial complex I deficiency 6  
nuclear type mitochondrial complex I deficiency 7  
nuclear type mitochondrial complex I deficiency 8  
nuclear type mitochondrial complex I deficiency 9  
oculocutaneous albinism +   
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  
organic acidemia +   
ornithine translocase deficiency  
orofacial cleft 14 
orofacial cleft 7 +   
orofaciodigital syndrome III  
orofaciodigital syndrome IV  
orofaciodigital syndrome IX  
orofaciodigital syndrome V  
orofaciodigital syndrome XVI  
orofaciodigital syndrome XVII  
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 
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 
Pashayan Syndrome 
Patella Hypoplasia Mental Retardation 
Pavone Fiumara Rizzo Syndrome 
Pendred syndrome  
pentosuria  
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  
phenylketonuria +   
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 +   
postaxial acrofacial dysostosis  
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 coenzyme Q10 deficiency 9  
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 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  
propionic acidemia +   
proprotein convertase 1/3 deficiency  
prothrombin deficiency +   
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation  
prune belly syndrome +   
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
pseudo-TORCH syndrome 1  
Pseudoaminopterin Syndrome 
Pseudouridinuria and Mental Defect 
pseudoxanthoma elasticum +   
purine nucleoside phosphorylase deficiency  
pycnodysostosis  
pyridoxine-dependent epilepsy  
pyruvate kinase deficiency of red cells  
Qazi Markouizos syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rahman Syndrome  
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 81  
retinitis pigmentosa 84  
retinitis pigmentosa 85  
retinitis pigmentosa 88  
retinitis pigmentosa 90  
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  
Rowley-Rosenberg Syndrome 
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Ruijs-Aalfs syndrome  
Ruzicka Goerz Anton syndrome 
Saldino-Noonan syndrome  
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
Sao Paulo MCA/MR Syndrome 
Sarcosinemia  
SATB2-associated syndrome  
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schimke immuno-osseous dysplasia  
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 3 
Seckel syndrome 4  
Seemanova Lesny Syndrome 
Sengers syndrome  
Senior-Loken syndrome +   
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
sepiapterin reductase deficiency  
serine deficiency +   
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 congenital neutropenia 3  
severe congenital neutropenia 4 +   
severe congenital neutropenia 5  
severe congenital neutropenia 6  
severe congenital neutropenia 7  
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Shaheen Syndrome  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
short-rib thoracic dysplasia 10 with or without polydactyly  
short-rib thoracic dysplasia 11 with or without polydactyly  
short-rib thoracic dysplasia 13 with or without polydactyly  
short-rib thoracic dysplasia 14 with polydactyly  
short-rib thoracic dysplasia 18 with polydactyly  
short-rib thoracic dysplasia 19 with or without polydactyly  
short-rib thoracic dysplasia 6 with or without polydactyly  
short-rib thoracic dysplasia 7 with or without polydactyly  
short-rib thoracic dysplasia 8 with or without polydactyly  
short-rib thoracic dysplasia 9 with or without polydactyly  
sickle cell anemia +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
SIFRIM-HITZ-WEISS 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 3  
spastic ataxia +   
spastic ataxia 2  
spastic ataxia 3  
spastic ataxia 4  
spastic ataxia 5  
spastic ataxia 8  
Spastic Diplegia Infantile Type 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spastic Paraplegia, Epilepsy, Mental Retardation 
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY  
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spastic Paresis, Glaucoma, and Mental Retardation 
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
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 44  
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  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 6  
SPOAN syndrome  
spondylocarpotarsal synostosis syndrome  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 
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  
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS  
succinic semialdehyde dehydrogenase deficiency  
Sucrosuria, Hiatus Hernia and Mental Retardation 
Supernumerary Der(22)t(8 
syndromic intellectual disability +   
syndromic microphthalmia 9  
systemic primary carnitine deficiency disease  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
Tatton-Brown-Rahman 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  
Tiglic Acidemia 
Tolchin-Le Caignec Syndrome  
Tonoki Syndrome 
torsion dystonia 17 
torsion dystonia 2  
transient bullous dermolysis of the newborn  
transient infantile liver failure  
Treacher Collins syndrome 2  
Treacher Collins syndrome 3  
Trichodental Syndrome 
trichohepatoenteric syndrome +   
trimethylaminuria  
triple-A syndrome  
Troyer syndrome  
Tryptophanuria with Dwarfism 
Tsukahara Syndrome  
tyrosinemia +   
Tyrosinosis 
Ullrich congenital muscular dystrophy +   
Ulnar Hypoplasia with Mental Retardation 
Upton Young Syndrome 
urea cycle disorder +   
Urocanase Deficiency  
urofacial syndrome +   
Usher syndrome +   
UV-sensitive syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
Valinemia +   
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 
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
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  
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  
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  

Synonyms
Exact Synonyms: DCBXA ;   Dicarboxylic amino aciduria ;   Dicarboxylicamino Aciduria ;   Glutamate and aspartate transport defect ;   dicarboxylicaminoaciduria ;   glutamate-aspartate transport defect ;   inborn error of glutamic and aspartate transport
Primary IDs: MESH:C536171
Alternate IDs: OMIM:222730
Xrefs: GARD:1855 ;   ORDO:2195
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/18200002/ "DO"

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