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17-beta hydroxysteroid dehydrogenase 3 deficiency +
2-aminoadipic 2-oxoadipic aciduria
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
Abruzzo-Erickson syndrome
achalasia microcephaly syndrome
acrocapitofemoral dysplasia
Acromegaloid Facial Appearance Syndrome
acromesomelic dysplasia +
acromesomelic dysplasia, Grebe type
acromesomelic dysplasia, Hunter-Thompson type
acromesomelic dysplasia, Maroteaux type
acromesomelic dysplasia-3
acromesomelic dysplasia-4
adenine phosphoribosyltransferase deficiency
adult spinal muscular atrophy
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
agenesis of the corpus callosum with peripheral neuropathy
alacrima, achalasia, and impaired intellectual development syndrome
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Alkuraya-Kucinskas syndrome
Alopecia Contractures Dwarfism Mental Retardation
alopecia, neurologic defects, and endocrinopathy syndrome
alopecia-mental retardation syndrome 1
alopecia-mental retardation syndrome 2
alopecia-mental retardation syndrome 3
alopecia-mental retardation syndrome 4
Alpers-Huttenlocher syndrome +
alpha-2-plasmin inhibitor deficiency
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 1J
amelogenesis imperfecta type 2A1
amelogenesis imperfecta type 2A6
amelogenesis imperfecta type 3C
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
amyotrophic lateral sclerosis type 1
anterior segment dysgenesis 2 +
anterior segment dysgenesis 7
anterior segment dysgenesis 8
antithrombin III deficiency
Antley-Bixler syndrome with disordered steroidogenesis
arthrogryposis multiplex congenita +
asphyxiating thoracic dystrophy 1
asphyxiating thoracic dystrophy 2
asphyxiating thoracic dystrophy 3
asphyxiating thoracic dystrophy 4
asphyxiating thoracic dystrophy 5
Asymmetric Short Stature Syndrome
Athabaskan brainstem dysgenesis syndrome
atrial heart septal defect 1
atrial heart septal defect 2 +
atrial heart septal defect 3
atrial heart septal defect 4
atrial heart septal defect 5
atrial heart septal defect 6
atrial heart septal defect 7
atrial heart septal defect 8
atrial heart septal defect 9
Atrial Septal Defect Ostium Primum
Atrial Septal Defect Sinus Venosus
Atrial Septal Defect with Atrioventricular Conduction Defects +
Atrial Septal Defect, Secundum Type
atrichia with papular lesions
atrioventricular septal defect +
autoimmune lymphoproliferative syndrome type 2B
autoimmune lymphoproliferative syndrome type 3
autosomal recessive Alport syndrome
autosomal recessive centronuclear myopathy +
autosomal recessive cerebellar ataxia +
autosomal recessive chronic granulomatous disease 1
autosomal recessive chronic granulomatous disease 2
autosomal recessive chronic granulomatous disease 3
autosomal recessive chronic granulomatous disease 4
autosomal recessive chronic granulomatous disease 5
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 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 intellectual developmental disorder +
autosomal recessive isolated ectopia lentis 2
autosomal recessive limb-girdle muscular dystrophy +
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 Peripheral Neuropathy with or without Impaired Intellectual Development
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 spondyloepiphyseal dysplasia tarda
autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type
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 +
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
axial spondylometaphyseal dysplasia
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Bagatelle Cassidy Syndrome
benign recurrent intrahepatic cholestasis 1
benign recurrent intrahepatic cholestasis 2
Bernard-Soulier syndrome +
beta-ketothiolase deficiency
BH4-deficient hyperphenylalaninemia A
BH4-deficient hyperphenylalaninemia B
BH4-deficient hyperphenylalaninemia C
BH4-deficient hyperphenylalaninemia D
bilateral frontoparietal polymicrogyria
bilateral parasagittal parieto-occipital polymicrogyria
Bird Headed Dwarfism Montreal Type
Boucher-Neuhauser syndrome
Brachydactylous Dwarfism Mseleni Type
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachyolmia Type 1, Hobaek Type
brachyolmia-amelogenesis imperfecta syndrome
brain small vessel disease 3
branched-chain keto acid dehydrogenase kinase deficiency
brittle cornea syndrome 1
brittle cornea syndrome 2
Brown-Vialetto-Van Laere syndrome 1
Brown-Vialetto-Van Laere syndrome 2
Bullous Dystrophy, Hereditary Macular Type
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Cantu Sanchez-Corona Fragoso Syndrome
carbamoyl phosphate synthetase I deficiency disease
carboxypeptidase N deficiency
Cardioacrofacial Dysplasia +
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 19 multiple types
cataract 22 multiple types
cataract 46 juvenile-onset
cataract 9 multiple types
central conducting lymphatic anomaly
cerebellar atrophy, visual impairment, and psychomotor retardation
cerebellofaciodental syndrome
cerebral folate receptor alpha deficiency
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
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 +
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia with joint dislocations gPAPP type
classic dopamine transporter deficiency syndrome
cleft lip-palate-ectodermal dysplasia syndrome
cold-induced sweating syndrome +
combined cellular and humoral immune defects with granulomas
combined D-2- and L-2-hydroxyglutaric aciduria
combined deficiency of vitamin K-dependent clotting factors 1
combined deficiency of vitamin K-dependent clotting factors 2
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 44
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 52
combined oxidative phosphorylation deficiency 53
combined oxidative phosphorylation deficiency 54
combined oxidative phosphorylation deficiency 56
combined oxidative phosphorylation deficiency 57
combined oxidative phosphorylation deficiency 7
combined oxidative phosphorylation deficiency 8
combined oxidative phosphorylation deficiency 9
common variable immunodeficiency +
Compton-North congenital myopathy
congenital adrenal insufficiency
congenital afibrinogenemia +
congenital amegakaryocytic thrombocytopenia +
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 fibrosis of the extraocular muscles 2
congenital fibrosis of the extraocular muscles 5
congenital generalized lipodystrophy +
congenital heart defects, hamartomas of tongue, and polysyndactyly
congenital hereditary endothelial dystrophy of cornea
congenital hypothyroidism +
congenital hypotrichosis with juvenile macular dystrophy
congenital lactase deficiency
congenital leptin deficiency
congenital limbs-face contractures-hypotonia-developmental delay syndrome
congenital malabsorptive diarrhea 4
congenital merosin-deficient muscular dystrophy 1A +
congenital muscular dystrophy 1B
congenital muscular dystrophy due to integrin alpha-7 deficiency
congenital muscular dystrophy with cataracts and intellectual disability
congenital muscular dystrophy-dystroglycanopathy type A +
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 Upper Extremity Deformities +
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
corneal dystrophy-perceptive deafness syndrome
cortical dysplasia-focal epilepsy syndrome
corticosterone methyloxidase deficiency 1
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
cortisone reductase deficiency 1
cranioectodermal dysplasia +
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
craniotubular dysplasia Ikegawa type
cytochrome P450 oxidoreductase deficiency
D-2-hydroxyglutaric aciduria 1
De Sanctis-Cacchione syndrome
developmental and epileptic encephalopathy 101
developmental and epileptic encephalopathy 102
developmental and epileptic encephalopathy 105
developmental and epileptic encephalopathy 106
developmental and epileptic encephalopathy 107
developmental and epileptic encephalopathy 110
developmental and epileptic encephalopathy 12
developmental and epileptic encephalopathy 15
developmental and epileptic encephalopathy 16
developmental and epileptic encephalopathy 18
developmental and epileptic encephalopathy 21
developmental and epileptic encephalopathy 23
developmental and epileptic encephalopathy 25
developmental and epileptic encephalopathy 28
developmental and epileptic encephalopathy 29
developmental and epileptic encephalopathy 3
developmental and epileptic encephalopathy 31B
developmental and epileptic encephalopathy 34
developmental and epileptic encephalopathy 35
developmental and epileptic encephalopathy 37
developmental and epileptic encephalopathy 38
developmental and epileptic encephalopathy 39
developmental and epileptic encephalopathy 40
developmental and epileptic encephalopathy 44
developmental and epileptic encephalopathy 48
developmental and epileptic encephalopathy 49
developmental and epileptic encephalopathy 50
developmental and epileptic encephalopathy 51
developmental and epileptic encephalopathy 52
developmental and epileptic encephalopathy 53
developmental and epileptic encephalopathy 55
developmental and epileptic encephalopathy 60
developmental and epileptic encephalopathy 61
developmental and epileptic encephalopathy 63
developmental and epileptic encephalopathy 68
developmental and epileptic encephalopathy 71
developmental and epileptic encephalopathy 75
developmental and epileptic encephalopathy 76
developmental and epileptic encephalopathy 80
developmental and epileptic encephalopathy 81
developmental and epileptic encephalopathy 82
developmental and epileptic encephalopathy 83
developmental and epileptic encephalopathy 84
developmental and epileptic encephalopathy 86
developmental and epileptic encephalopathy 88
developmental and epileptic encephalopathy 89
developmental and epileptic encephalopathy 95
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
dicarboxylic aminoaciduria
dihydropyrimidinase deficiency
dilated cardiomyopathy 1X
dilated cardiomyopathy 2A
dilated cardiomyopathy 2B
dilated cardiomyopathy 2C
dilated cardiomyopathy 2D
dilated cardiomyopathy 2E
dilated cardiomyopathy 2F
dilated cardiomyopathy 2G
dimethylglycine dehydrogenase deficiency
diphthamide deficiency syndrome +
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
distal arthrogryposis type 5D
distal myopathy with anterior tibial onset
Distal Transverse Limb Defects with Mental Retardation and Spasticity
Dwarfism Stiff Joint Ocular Abnormalities
Dwarfism with Tall Vertebrae
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
Dyggve-Melchior-Clausen disease +
Dyssegmental Dysplasia with Glaucoma
dystonia 22, juvenile-onset
dystonia 35, childhood-onset
dystonia 37, early-onset with striatal lesions
dystonia, DOPA-responsive
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
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
Ellis-Van Creveld syndrome +
endocrine-cerebro-osteodysplasia syndrome
ENDOVE SYNDROME, LIMB-BRAIN TYPE
epidermodysplasia verruciformis +
epidermolysis bullosa simplex with muscular dystrophy
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 4
erythrokeratodermia variabilis et progressiva 5
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 Dwarfism with Muscle Spasms
familial erythrocytosis 2
familial hemophagocytic lymphohistiocytosis 1
familial hemophagocytic lymphohistiocytosis 2
familial hemophagocytic lymphohistiocytosis 3
familial hemophagocytic lymphohistiocytosis 4
familial hyperinsulinemic hypoglycemia 1
familial hyperinsulinemic hypoglycemia 2
familial hyperinsulinemic hypoglycemia 4
familial hyperinsulinemic hypoglycemia 8
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 Synovial Chondromatosis with Dwarfism
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 hypertonic myofibrillar myopathy
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 akinesia deformation sequence syndrome X-linked
fetal encasement syndrome
fibular hypoplasia and complex brachydactyly
focal segmental glomerulosclerosis 6
focal segmental glomerulosclerosis 9
Freire-Maia Odontotrichomelic Syndrome
galactose epimerase deficiency
Galloway-Mowat syndrome +
Galloway-Mowat syndrome 1
Galloway-Mowat syndrome 3
Galloway-Mowat syndrome 4
gamma-glutamyl transpeptidase deficiency
GARG-MISHRA PROGEROID SYNDROME
Gaucher's disease type III +
gelatinous drop-like corneal dystrophy
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
giant axonal neuropathy 1
glucocorticoid deficiency 1
glutamate formiminotransferase deficiency
glutamate-cysteine ligase deficiency
glutathione synthetase deficiency of erythrocytes
glutatione synthetase deficiency with 5-oxoprolinuria
glycogen storage disease Ia
glycogen storage disease Ib
glycogen storage disease Ic
glycogen storage disease II +
glycogen storage disease III +
glycogen storage disease IV +
glycogen storage disease IXC
glycogen storage disease V
glycogen storage disease VI
glycogen storage disease VII
glycogen storage disease XV
Goldberg-Shprintzen syndrome
growth hormone insensitivity syndrome with immune dysregulation 1
Growth Hormone Insensitivity with Immune Dysregulation +
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Grubben de Cock Borghgraef Syndrome
Hand and Foot Deformity with Flat Facies
Heart Defects Limb Shortening
Hengel-Maroofian-Schols syndrome
hepatic venoocclusive disease with immunodeficiency
hereditary angioedema type I
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 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 70
hereditary spastic paraplegia 72A
hereditary spastic paraplegia 74
hereditary spastic paraplegia 75
hereditary spastic paraplegia 76
hereditary spastic paraplegia 77
hereditary spastic paraplegia 78
hereditary spastic paraplegia 79B
hereditary spastic paraplegia 81
hereditary spastic paraplegia 82
hereditary spastic paraplegia 83
hereditary spastic paraplegia 84
hereditary spastic paraplegia 85
hereditary spastic paraplegia 86
hereditary spastic paraplegia 87
hereditary spastic paraplegia 89
hereditary spastic paraplegia 90B
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
histiocytosis-lymphadenopathy plus syndrome
HMG-CoA synthase 2 deficiency
homocystinuria-megaloblastic anemia cblE type
homocystinuria-megaloblastic anemia cblG type
hyaline fibromatosis syndrome
hyper IgE recurrent infection syndrome 2
hyper IgE recurrent infection syndrome 3
hyper IgE recurrent infection syndrome 4
hyperphosphatemic familial tumoral calcinosis +
hypertelorism, microtia, facial clefting syndrome
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
hypomyelinating leukodystrophy 10
hypomyelinating leukodystrophy 11
hypomyelinating leukodystrophy 12
hypomyelinating leukodystrophy 13
hypomyelinating leukodystrophy 14
hypomyelinating leukodystrophy 15
hypomyelinating leukodystrophy 17
hypomyelinating leukodystrophy 18
hypomyelinating leukodystrophy 2
hypomyelinating leukodystrophy 20
hypomyelinating leukodystrophy 21
hypomyelinating leukodystrophy 23
hypomyelinating leukodystrophy 26
hypomyelinating leukodystrophy 3
hypomyelinating leukodystrophy 4
hypomyelinating leukodystrophy 5
hypomyelinating leukodystrophy 7
hypomyelinating leukodystrophy 8
hypomyelinating leukodystrophy 9
hypoparathyroidism-retardation-dysmorphism syndrome
hypotrichosis-lymphedema-telangiectasia syndrome +
Ichthyosis Tapered Fingers Midline Groove Up
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
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 +
infantile cerebellar-retinal degeneration
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
infantile liver failure syndrome 1
infantile parkinsonism-dystonia 2
inflammatory bowel disease 25
inflammatory bowel disease 28
inflammatory poikiloderma with hair abnormalities and acral keratoses
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
intellectual developmental disorder with cardiac arrhythmia
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
intellectual developmental disorder with short stature and behavioral abnormalities
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
intermediate spinal muscular atrophy
interstitial lung disease 1
isolated growth hormone deficiency +
isolated hyperchlorhidrosis
isolated microphthalmia 1
isolated microphthalmia 2
isolated microphthalmia 3
isolated microphthalmia 5
isolated microphthalmia 6
isolated microphthalmia 8
isolated sulfite oxidase deficiency
Johanson-Blizzard syndrome
JOINT LAXITY, SHORT STATURE, AND MYOPIA
junctional epidermolysis bullosa Herlitz type +
junctional epidermolysis bullosa non-Herlitz type +
junctional epidermolysis bullosa with pyloric atresia
Kaplan Plauchu Fitch Syndrome
karyomegalic interstitial nephritis
Kaufman oculocerebrofacial syndrome
Kenny-Caffey syndrome type 1
Kenny-Caffey syndrome type 2
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
keratosis pilaris atrophicans +
Kohlschutter-Tonz syndrome
Laplane Fontaine Lagardere Syndrome
Larsen-like syndrome B3GAT3 type
Laryngeal Atresia, Encephalocele, and Limb Deformities
late-adult onset retinitis pigmentosa
Le Marec Bracq Picaud 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
lethal congenital contracture syndrome +
Lethal Faciocardiomelic Dysplasia
leukocyte adhesion deficiency +
leukoencephalopathy with vanishing white matter +
lissencephaly 7 with cerebellar hypoplasia
Lower Extremity Deformities, Congenital +
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
lymphoproliferative syndrome 1
lymphoproliferative syndrome 2
Lynch Lee Murday syndrome
lysosomal acid lipase deficiency +
mandibuloacral dysplasia type B lipodystrophy
McKusick-Kaufman syndrome
megaconial type congenital muscular dystrophy
megalencephalic leukoencephalopathy with subcortical cysts 1
megalencephalic leukoencephalopathy with subcortical cysts 2A
Mental Retardation Spasticity Ectrodactyly
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
Mesomelia-Synostoses Syndrome
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Metaphyseal Anadysplasia +
Metatropic Dwarfism, Type II
methemoglobinemia and ambiguous genitalia
Microcephalic Osteodysplastic Primordial Dwarfism +
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, seizures, and developmental delay
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
microcephaly, short stature, and limb abnormalities
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
microphthalmia with limb anomalies
microvillus inclusion disease +
Microvillus Inclusion Disease 2
mismatch repair cancer syndrome +
mitochondrial complex IV deficiency nuclear type 1
mitochondrial complex IV deficiency nuclear type 10
mitochondrial complex IV deficiency nuclear type 11
mitochondrial complex IV deficiency nuclear type 12
mitochondrial complex IV deficiency nuclear type 13
mitochondrial complex IV deficiency nuclear type 14
mitochondrial complex IV deficiency nuclear type 15
mitochondrial complex IV deficiency nuclear type 16
mitochondrial complex IV deficiency nuclear type 17
mitochondrial complex IV deficiency nuclear type 18
mitochondrial complex IV deficiency nuclear type 19
mitochondrial complex IV deficiency nuclear type 2
mitochondrial complex IV deficiency nuclear type 20
mitochondrial complex IV deficiency nuclear type 21
mitochondrial complex IV deficiency nuclear type 22
mitochondrial complex IV deficiency nuclear type 23
mitochondrial complex IV deficiency nuclear type 3
mitochondrial complex IV deficiency nuclear type 4
mitochondrial complex IV deficiency nuclear type 6
mitochondrial complex IV deficiency nuclear type 7
mitochondrial complex IV deficiency nuclear type 8
mitochondrial complex IV deficiency nuclear type 9
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
mitochondrial complex V (ATP synthase) deficiency nuclear type 5
mitochondrial complex V (ATP synthase) deficiency nuclear type 7
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 16
mitochondrial DNA depletion syndrome 16B
mitochondrial DNA depletion syndrome 17
mitochondrial DNA depletion syndrome 18
mitochondrial DNA depletion syndrome 19
mitochondrial DNA depletion syndrome 2
mitochondrial DNA depletion syndrome 20
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
mosaic variegated aneuploidy syndrome 1
mosaic variegated aneuploidy syndrome 2
mosaic variegated aneuploidy syndrome 3
Mosaic Variegated Aneuploidy Syndrome 6
mucolipidosis III alpha/beta +
mucopolysaccharidosis Ih/s
mucopolysaccharidosis IVA
mucopolysaccharidosis type IIIA
mucopolysaccharidosis type IIIB
mucopolysaccharidosis type IIIC
mucopolysaccharidosis type IIID
mucopolysaccharidosis type IVB
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-hypotonia-seizures syndrome 4
multiple epiphyseal dysplasia 4
multiple epiphyseal dysplasia 7
Multiple Epiphyseal Dysplasia with Robin Phenotype
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
Multiple Pterygium Syndrome, X-Linked
muscular dystrophy-dystroglycanopathy type B1
muscular dystrophy-dystroglycanopathy type B15
muscular dystrophy-dystroglycanopathy type B2
muscular dystrophy-dystroglycanopathy type B3
muscular dystrophy-dystroglycanopathy type B4
muscular dystrophy-dystroglycanopathy type B5
muscular dystrophy-dystroglycanopathy type B6
myopathy with extrapyramidal signs
N-acetylglutamate synthase deficiency
neonatal diabetes mellitus with congenital hypothyroidism
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
neonatal-onset type II citrullinemia
nephrogenic diabetes insipidus type 2
Nephrosis with Deafness and Urinary Tract and Digital Malformations
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 21
nephrotic syndrome type 22
nephrotic syndrome type 23
nephrotic syndrome type 3
nephrotic syndrome type 5
nephrotic syndrome type 6
nephrotic syndrome type 7
nephrotic syndrome type 8
nephrotic syndrome type 9
Nestor-Guillermo progeria 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 DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
neurodevelopmental disorder with midbrain and hindbrain malformations
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
neuronal ceroid lipofuscinosis 1
neuronal ceroid lipofuscinosis 10
neuronal ceroid lipofuscinosis 11
neuronal ceroid lipofuscinosis 13
neuronal ceroid lipofuscinosis 2
neuronal ceroid lipofuscinosis 3
neuronal ceroid lipofuscinosis 5
neuronal ceroid lipofuscinosis 6A
neuronal ceroid lipofuscinosis 6B
neuronal ceroid lipofuscinosis 7
neuronal ceroid lipofuscinosis 8
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
neuronal ceroid lipofuscinosis 9
Nijmegen breakage syndrome +
nonphotosensitive trichothiodystrophy +
nonphotosensitive trichothiodystrophy 4
nonphotosensitive trichothiodystrophy 6
nonphotosensitive trichothiodystrophy 7
nonsyndromic congenital nail disorder 3
nonsyndromic congenital nail disorder 4
nonsyndromic congenital nail disorder 9
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 +
Oculootofacial Dysplasia +
Oculopalatocerebral Syndrome
Oliver-McFarlane syndrome
optic disc anomalies with retinal and/or macular dystrophy
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 21
osteogenesis imperfecta type 7
osteogenesis imperfecta type 8
osteogenesis imperfecta type 9
osteoporosis-pseudoglioma syndrome
osteosclerotic metaphyseal dysplasia
otospondylomegaepiphyseal dysplasia, autosomal recessive
oxoglutarate dehydrogenase deficiency
Paget's disease of bone 5
Palant Cleft Palate Syndrome
pantothenate kinase-associated neurodegeneration
Papillon-Lefevre disease +
permanent neonatal diabetes mellitus +
peroxisomal acyl-CoA oxidase deficiency
Peroxisome biogenesis disorder 10B
Peroxisome biogenesis disorder 11B
peroxisome biogenesis disorder 14B
peroxisome biogenesis disorder 1B
peroxisome biogenesis disorder 2B
peroxisome biogenesis disorder 3B
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 8B
Peroxisome biogenesis disorder 9B
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
photosensitive trichothiodystrophy 1
photosensitive trichothiodystrophy 2
photosensitive trichothiodystrophy 3
Pitt-Hopkins-like syndrome 2
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
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
polyhydramnios, megalencephaly, and symptomatic epilepsy
pontocerebellar hypoplasia type 11
pontocerebellar hypoplasia type 12
pontocerebellar hypoplasia type 13
pontocerebellar hypoplasia type 14
pontocerebellar hypoplasia type 15
pontocerebellar hypoplasia type 16
pontocerebellar hypoplasia type 1A
pontocerebellar hypoplasia type 1B
pontocerebellar hypoplasia type 1C
pontocerebellar hypoplasia type 1D
pontocerebellar hypoplasia type 1E
pontocerebellar hypoplasia type 1F
pontocerebellar hypoplasia type 2A
pontocerebellar hypoplasia type 2B
pontocerebellar hypoplasia type 2C
pontocerebellar hypoplasia type 2D
pontocerebellar hypoplasia type 2E
pontocerebellar hypoplasia type 2F
postaxial acrofacial dysostosis
Powell Chandra Saal 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
primary ovarian insufficiency 10
primary ovarian insufficiency 12
primary ovarian insufficiency 13
primary ovarian insufficiency 14
primary ovarian insufficiency 15
primary ovarian insufficiency 18
primary ovarian insufficiency 19
primary ovarian insufficiency 8
primary ovarian insufficiency 9
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY 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 leukoencephalopathy with ovarian failure
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 pseudorheumatoid arthropathy of childhood
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Proportionate Dwarfism with Hip Dislocation
proprotein convertase 1/3 deficiency
proteasome-associated autoinflammatory syndrome 1
proteosome-associated autoinflammatory syndrome 3
proteosome-associated autoinflammatory syndrome 4
proteosome-associated autoinflammatory syndrome 5
Pseudodiastrophic Dysplasia
pseudoxanthoma elasticum +
pulmonary venoocclusive disease 2
purine nucleoside phosphorylase deficiency
pyridoxine-dependent epilepsy +
pyruvate kinase deficiency of red cells
Radial Ray Deficiency, X-Linked
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
rapadilino syndrome A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. (DO)
Reardon Hall Slaney syndrome
recessive dystrophic epidermolysis bullosa
Renal Dysplasia - Limb Defects Syndrome
retinal cone dystrophy 3B
retinal dystrophy with leukodystrophy
retinitis pigmentosa with or without situs inversus
rhizomelic chondrodysplasia punctata +
rigid spine muscular dystrophy 1
Ritscher-Schinzel syndrome +
Ritscher-Schinzel syndrome 1
RNASET2-deficient cystic leukoencephalopathy
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rommen Mueller Sybert Syndrome
Rothmund-Thomson Syndrome Type 1
Rothmund-Thomson Syndrome Type 2
Ruzicka Goerz Anton syndrome
Sandestig-Stefanova syndrome
Schimke immuno-osseous dysplasia
Schwartz-Jampel syndrome 1
Seckel Like Syndrome Type Buebel
Secundum Atrial Septal Defect with Various Cardiac and Noncardiac Defects
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
sepiapterin reductase 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
Short Limb Dwarfism Al Gazali Type
Short Stature and Facioauriculothoracic Malformations
Short Stature and Microcephaly with Genital Anomalies
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature with Nonspecific Skeletal Abnormalities
SHORT STATURE, DAUBER-ARGENTE TYPE
Short Stature, Developmental Delay, and Congenital Heart Defects
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
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
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Silver-Russell syndrome +
Silverman-Handmaker type dyssegmental dysplasia
Singh Chhaparwal Dhanda Syndrome
Sjogren-Larsson syndrome +
Skeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
SOST-related sclerosing bone dysplasia
Spastic Paraplegia with Neuropathy and Poikiloderma
spastic quadriplegic cerebral palsy 3
spinal muscular atrophy with progressive myoclonic epilepsy
Splenogonadal Fusion with Limb Defects and Micrognathia
split hand-foot malformation +
split hand-foot malformation 1 with sensorineural hearing loss
split hand-foot malformation 6
Split-Foot Malformation with Mesoaxial Polydactyly
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
spondylocarpotarsal synostosis syndrome
Spondylocostal Dysostosis, Autosomal Recessive +
spondyloepimetaphyseal dysplasia with joint laxity type 1
spondyloepimetaphyseal dysplasia with joint laxity type 3
spondyloepimetaphyseal dysplasia, Genevieve-type
spondyloepimetaphyseal dysplasia, Pakistani type
spondyloepimetaphyseal dysplasia, Sponastrime type
spondyloepiphyseal dysplasia Kondo-Fu type
spondyloepiphyseal dysplasia tarda with characteristic facies
spondyloepiphyseal dysplasia tarda with intellectual disability
Spondyloepiphyseal Dysplasia Tarda, Toledo Type
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
spondylometaepiphyseal dysplasia, short limb-hand type
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
spondylometaphyseal dysplasia Sedaghatian type
spondylometaphyseal dysplasia with cone-rod dystrophy
spondylometaphyseal dysplasia with corneal dystrophy
Stern Lubinsky Durrie Syndrome
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
syndromic microphthalmia 6
syndromic microphthalmia 9
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
TANGO2-related metabolic encephalopathy and arrythmias
Tel Hashomer Camptodactyly Syndrome
temtamy preaxial brachydactyly syndrome
Tessadori-van Haaften Neurodevelopmental Syndrome 1
Tetramelic Postaxial Oligodactyly
thanatophoric dysplasia +
thiamine-responsive megaloblastic anemia syndrome
Thoracic Dysplasia-Hydrocephalus Syndrome
Thoraco Limb Dysplasia Rivera Type
thrombocytopenia-absent radius syndrome
thyroid dyshormonogenesis 1
thyroid dyshormonogenesis 2A
thyroid dyshormonogenesis 3
thyroid dyshormonogenesis 4
thyroid dyshormonogenesis 5
thyroid dyshormonogenesis 6
transient bullous dermolysis of the newborn
transient infantile liver failure
Treacher Collins syndrome 2
Treacher Collins syndrome 3
trichohepatoenteric syndrome +
Tryptophanuria with Dwarfism
Ullrich congenital muscular dystrophy +
Ulnar Hypoplasia with Mental Retardation
Van den Ende-Gupta syndrome
ventriculomegaly - cystic kidney disease
Viljoen Kallis Voges Syndrome
visual impairment and progressive phthisis bulbi
vitamin D-dependent rickets type 1A
vitamin D-dependent rickets type 1B
vitamin D-dependent rickets type 2A
Walker-Warburg syndrome +
Weill-Marchesani syndrome +
Weill-Marchesani Syndrome 3
Weyers acrofacial dysostosis
Wiedemann-Rautenstrauch syndrome
Wolcott-Rallison syndrome
Woodhouse-Sakati syndrome
Yoon-Bellen neurodevelopmental syndrome
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