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17-beta hydroxysteroid dehydrogenase 3 deficiency +
2-aminoadipic 2-oxoadipic aciduria
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyisobutryl-CoA hydrolase deficiency
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
achalasia microcephaly syndrome
acrocapitofemoral dysplasia
acromesomelic dysplasia, Grebe type
acromesomelic dysplasia, Hunter-Thompson type
acromesomelic dysplasia, Maroteaux type
acromesomelic dysplasia-4
Acute Febrile Encephalopathy
adenine phosphoribosyltransferase deficiency
adult spinal muscular atrophy
Agenesis of Corpus Callosum +
agenesis of the corpus callosum with peripheral neuropathy
Aicardi-Goutieres syndrome +
alacrima, achalasia, and impaired intellectual development syndrome
Alkuraya-Kucinskas syndrome
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
aminoglycoside-induced deafness
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
Ataxia, Deafness, and Cardiomyopathy
Athabaskan brainstem dysgenesis syndrome A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. (DO)
atrichia with papular lesions
autoimmune lymphoproliferative syndrome type 2B
autoimmune lymphoproliferative syndrome type 3
autosomal dominant cerebellar ataxia, deafness and narcolepsy
autosomal dominant nonsyndromic deafness +
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 spinocerebellar ataxia 19
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 +
autosomal-mitochondrial sensorineural deafness
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
axial spondylometaphyseal dysplasia
benign recurrent intrahepatic cholestasis 1
benign recurrent intrahepatic cholestasis 2
bent bone dysplasia syndrome 2
Bernard-Soulier syndrome +
beta-ketothiolase deficiency
Beta-Ureidopropionase 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
Boucher-Neuhauser syndrome
Boudhina Yedes Khiari syndrome
Brachydactyly, Intraventricular Septal Defect, and Deafness
brachyolmia-amelogenesis imperfecta syndrome
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
BRAIN MALFORMATION RENAL 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 +
Brown-Vialetto-Van Laere syndrome 1
Brown-Vialetto-Van Laere syndrome 2
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
carbamoyl phosphate synthetase I deficiency disease
carboxypeptidase N deficiency
carnitine-acylcarnitine translocase deficiency
cartilage-hair hypoplasia
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
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Central Auditory Diseases +
Central Nervous System Cysts +
central nervous system origin vertigo
Central Nervous System Vascular Malformations +
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Cerebellar Ataxia and Neurosensory Deafness
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
cerebellar atrophy, visual impairment, and psychomotor retardation
cerebellofaciodental syndrome
cerebral folate receptor alpha deficiency
cerebrovascular disease +
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 1E
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 2J
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
Charcot-Marie-Tooth disease X-linked recessive 4
Chediak-Higashi syndrome +
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
Chitty Hall Baraitser Syndrome
chondrodysplasia with joint dislocations gPAPP type
chromosome 17p13.3 duplication syndrome
Chudley-Mccullough syndrome
classic dopamine transporter deficiency syndrome
cleft lip-palate-ectodermal dysplasia syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
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
Combined Pituitary Hormone Deficiency 3
common variable immunodeficiency +
complex cortical dysplasia with other brain malformations +
Compton-North congenital myopathy
congenital adrenal insufficiency
congenital afibrinogenemia +
congenital amegakaryocytic thrombocytopenia +
congenital amegakaryocytic thrombocytopenia 2
Congenital Cerebral Granulomas
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia
Congenital Deafness with Total Albinism
congenital diarrhea 5 with tufting enteropathy
congenital diarrhea 7 with exudative enteropathy
congenital disorder of deglycosylation 1
congenital disorder of deglycosylation 2
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 Ectodermal Dysplasia with Hearing Loss
congenital fibrosis of the extraocular muscles +
congenital fibrosis of the extraocular muscles 2
congenital fibrosis of the extraocular muscles 5
congenital generalized lipodystrophy +
congenital glutamine deficiency
congenital heart defects, hamartomas of tongue, and polysyndactyly
congenital hereditary endothelial dystrophy of cornea
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
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
craniofacial-deafness-hand syndrome
craniolenticulosutural dysplasia
craniotubular dysplasia Ikegawa type
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
cytochrome P450 oxidoreductase deficiency
D-2-hydroxyglutaric aciduria 1
Deafness, Progressive High-Tone Neural
Deafness-Infertility Syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Deafness-Oligodontia 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
developmental delay, dysmorphic facies, and brain anomalies
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
dicarboxylic aminoaciduria
Diffuse Lewy Body Disease with Gaze Palsy
dihydropyrimidinase deficiency
dilated cardiomyopathy 1J
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 +
disease of mental health +
distal arthrogryposis type 5D
distal arthrogryposis type 6
distal myopathy with anterior tibial onset
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness
Distal Renal Tubular Acidosis 3, Autosomal Recessive
dominant optic atrophy plus syndrome
Drachtman Weinblatt Sitarz Syndrome
Duane retraction syndrome +
Dyggve-Melchior-Clausen disease +
dystonia 22, juvenile-onset
dystonia 35, childhood-onset
dystonia 37, early-onset with striatal lesions
early onset progressive encephalopathy with brain atrophy and thin corpus callosum
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Ectodermal Dysplasia and Neurosensory Deafness
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
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 +
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
encephalopathy due to defective mitochondrial and peroxisomal fission 2
ENCEPHALOPATHY, ACUTE TRANSIENT
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 10
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
endocrine-cerebro-osteodysplasia syndrome
epidermodysplasia verruciformis +
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness
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 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 renal glucosuria
familial temporal lobe epilepsy 5
Familial Visceral Neuropathy 2, Autosomal Recessive
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 S
Fanconi anemia complementation group T
Fanconi anemia complementation group U
Fanconi anemia complementation group V
Fanconi anemia complementation group W
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 encasement syndrome
fibular hypoplasia and complex brachydactyly
Fitzsimmons Walson Mellor Syndrome
focal segmental glomerulosclerosis 6
focal segmental glomerulosclerosis 9
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
galactose epimerase deficiency
Galloway-Mowat syndrome +
Galloway-Mowat syndrome 1
Galloway-Mowat syndrome 3
Galloway-Mowat syndrome 4
gamma-glutamyl transpeptidase deficiency
Gaucher's disease type III +
gelatinous drop-like corneal dystrophy
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
giant axonal neuropathy 1
glaucomatous atrophy of optic disc
glucocorticoid deficiency 1
glucose-galactose malabsorption
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
Hearing Loss, Cisplatin-Induced
Hearing Loss, Noise-Induced
Hearing Loss, Unilateral Sensorineural
HEART AND BRAIN MALFORMATION SYNDROME
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 +
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 59
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
High-Frequency Hearing Loss +
histiocytosis-lymphadenopathy plus syndrome
Hittner Hirsch Kreh Syndrome
HMG-CoA synthase 2 deficiency
homocystinuria-megaloblastic anemia cblE type
homocystinuria-megaloblastic anemia cblG type
Homozygous 11p15-p14 Deletion Syndrome
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
hypervalinemia and hyperleucine-isoleucinemia
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-deafness-renal disease syndrome
hypoparathyroidism-retardation-dysmorphism syndrome
hypotrichosis-lymphedema-telangiectasia syndrome +
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
Insulin-Like Growth Factor I Deficiency
intellectual developmental disorder with cardiac arrhythmia
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES
intellectual developmental disorder with short stature and behavioral abnormalities
intermediate spinal muscular atrophy
interstitial lung disease 1
intracranial hypertension +
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
junctional epidermolysis bullosa Herlitz type +
junctional epidermolysis bullosa non-Herlitz type +
junctional epidermolysis bullosa with pyloric atresia
karyomegalic interstitial nephritis
Kaufman oculocerebrofacial syndrome
Kenny-Caffey syndrome type 1
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
keratosis pilaris atrophicans +
Kohlschutter-Tonz syndrome
Kuzniecky Andermann Syndrome
Larsen-like syndrome B3GAT3 type
late-adult onset retinitis pigmentosa
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 +
leukocyte adhesion deficiency +
leukoencephalopathy with vanishing white matter +
Levator-Medial Rectus Synkinesis
lissencephaly 7 with cerebellar hypoplasia
lymphocytic choriomeningitis
lymphoproliferative syndrome 1
lymphoproliferative syndrome 2
lysosomal acid lipase deficiency +
mandibuloacral dysplasia type B lipodystrophy
McKusick-Kaufman syndrome
Median-Ulnar Nerve Communications
megaconial type congenital muscular dystrophy
megalencephalic leukoencephalopathy with subcortical cysts 1
megalencephalic leukoencephalopathy with subcortical cysts 2A
Metabolic Brain Diseases +
methemoglobinemia and ambiguous genitalia
microcephalic osteodysplastic primordial dwarfism type I
microcephalic osteodysplastic primordial dwarfism type II
microcephaly and chorioretinopathy 1
microcephaly and chorioretinopathy 2
microcephaly and chorioretinopathy 3
microcephaly, growth deficiency, seizures, and brain malformations
microcephaly, seizures, and developmental delay
microcephaly, short stature, and limb abnormalities
microphthalmia with limb anomalies
microvillus inclusion disease +
Microvillus Inclusion Disease 2
Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization
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 short-chain enoyl-CoA hydratase 1 deficiency
mitochondrial trifunctional protein deficiency +
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 3
mosaic variegated aneuploidy syndrome 1
mosaic variegated aneuploidy syndrome 2
mosaic variegated aneuploidy syndrome 3
mosaic variegated aneuploidy syndrome 4
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 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, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
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
Myopathy, Epilepsy, and Progressive Cerebral Atrophy
N-acetylglutamate synthase deficiency
Nagashima-type palmoplantar keratosis
neonatal diabetes mellitus with congenital hypothyroidism
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities
neonatal-onset type II citrullinemia
nephrogenic diabetes insipidus type 2
Nephropathy, Deafness, and Hyperparathyroidism
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 and Language Delay with or Without Structural Brain Abnormalities
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
neurodevelopmental disorder with midbrain and hindbrain malformations
Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities
Neurodevelopmental Disorder with Seizures and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
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 +
Non-Lissencephalic Cortical Dysplasia
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
Nonsyndromic Sensorineural Hearing Loss +
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
ocular albinism with sensorineural deafness
oculocutaneous albinism +
Oliver-McFarlane syndrome
Opsoclonus-Myoclonus Syndrome +
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
optic disc anomalies with retinal and/or macular dystrophy
orofaciodigital syndrome II
orofaciodigital syndrome III
orofaciodigital syndrome IV
orofaciodigital syndrome IX
orofaciodigital syndrome V
orofaciodigital syndrome XIV
orofaciodigital syndrome XIX
orofaciodigital syndrome XVI
orofaciodigital syndrome XVII
orofaciodigital syndrome XVIII
orofaciodigital syndrome XX
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
Otofacioosseous-Gonadal Syndrome
otospondylomegaepiphyseal dysplasia, autosomal recessive
oxoglutarate dehydrogenase deficiency
Paget's disease of bone 5
palmoplantar keratoderma and woolly hair +
palmoplantar keratoderma-deafness syndrome
pantothenate kinase-associated neurodegeneration
Papillon-Lefevre disease +
Paragangliomas with Sensorineural Hearing Loss
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
Pfeiffer Kapferer Syndrome
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
photosensitive trichothiodystrophy 1
photosensitive trichothiodystrophy 2
photosensitive trichothiodystrophy 3
Pigmentary Retinopathy and Sensorineural Deafness
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
poor metabolism of thiopurines +
postaxial acrofacial dysostosis
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
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
Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
Progressive Encephalopathy, with or without Lipodystrophy
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 Nephropathy with Deafness
progressive pseudorheumatoid arthropathy of childhood
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
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
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
pseudoxanthoma elasticum +
pulmonary venoocclusive disease 2
purine nucleoside phosphorylase deficiency
pyridoxine-dependent epilepsy +
pyruvate kinase deficiency of red cells
recessive dystrophic epidermolysis bullosa
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations
retinal cone dystrophy 3B
retinal dystrophy with leukodystrophy
Retinitis Pigmentosa Inversa with Deafness
retinitis pigmentosa with or without situs inversus
rhizomelic chondrodysplasia punctata +
rigid spine muscular dystrophy 1
Ritscher-Schinzel syndrome 1
RNASET2-deficient cystic leukoencephalopathy
Robinson Miller Bensimon Syndrome
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Sandestig-Stefanova syndrome
Schaap Taylor Baraitser Syndrome
Schimke immuno-osseous dysplasia
Schwartz-Jampel syndrome 1
senile degeneration of brain
Sensorineural Deafness and Migraine
Sensorineural Deafness with Hypertrophic Cardiomyopathy
Sensorineural Deafness with Mild Renal Dysfunction
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
sepiapterin reductase deficiency
Sepsis-Associated Encephalopathy
Setting-Sun Phenomenon, Familial Benign
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 stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
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
Silverman-Handmaker type dyssegmental dysplasia
Sjogren-Larsson syndrome +
SOST-related sclerosing bone dysplasia
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy
spastic quadriplegic cerebral palsy 3
spinal muscular atrophy with progressive myoclonic epilepsy
split hand-foot malformation 1 with sensorineural hearing loss
split hand-foot malformation 6
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, Myopia, and Sensorineural Deafness
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
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
syndromic microphthalmia 3
syndromic microphthalmia 6
syndromic microphthalmia 9
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
TANGO2-related metabolic encephalopathy and arrythmias
temtamy preaxial brachydactyly syndrome
thiamine-responsive megaloblastic anemia syndrome
third cranial nerve disease +
thrombocytopenia-absent radius syndrome
Thyrocerebral-Retinal 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
Treft Sanborn Carey Syndrome
trichohepatoenteric syndrome +
Tunglang Savage Bellman Syndrome
Ullrich congenital muscular dystrophy +
uveal coloboma-cleft lip and palate-intellectual disability
Van den Ende-Gupta syndrome
ventriculomegaly - cystic kidney disease
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 +
Wiedemann-Rautenstrauch syndrome
Wolcott-Rallison syndrome
Wolfram syndrome, mitochondrial form
Woodhouse-Sakati syndrome
X-linked nonsyndromic deafness +
Yoon-Bellen neurodevelopmental syndrome
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