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3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
Absence of Tibia with Congenital Deafness
acrofacial dysostosis Cincinnati type
acrokeratosis verruciformis
adult-onset autosomal dominant demyelinating leukodystrophy
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
advanced sleep phase syndrome +
age related macular degeneration +
Albinism Deafness Syndrome
Alpha-B Crystallinopathy with Cataract
amelogenesis imperfecta type 1A
amelogenesis imperfecta type 1B
amelogenesis imperfecta type 3A
amelogenesis imperfecta type 3B
amelogenesis imperfecta type 4
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
anterior segment dysgenesis +
apolipoprotein C-III deficiency +
APP-related cerebral amyloid angiopathy
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation
arrhythmogenic right ventricular dysplasia 1
arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 11
arrhythmogenic right ventricular dysplasia 12
arrhythmogenic right ventricular dysplasia 13
arrhythmogenic right ventricular dysplasia 2
arrhythmogenic right ventricular dysplasia 3
arrhythmogenic right ventricular dysplasia 4
arrhythmogenic right ventricular dysplasia 5
arrhythmogenic right ventricular dysplasia 8
arrhythmogenic right ventricular dysplasia 9
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death
Ataxia with Myoclonic Epilepsy and Presenile Dementia
ataxia with oculomotor apraxia type 1
Ataxia-Microcephaly-Cataract Syndrome
atrial heart septal defect 2
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
autoimmune lymphoproliferative syndrome type 2A
autoimmune lymphoproliferative syndrome type 4
autosomal dominant Alport syndrome
autosomal dominant centronuclear myopathy +
autosomal dominant cerebellar ataxia +
autosomal dominant chondrodysplasia punctata +
autosomal dominant chronic granulomatous disease
autosomal dominant cutis laxa +
autosomal dominant distal hereditary motor neuronopathy +
Autosomal Dominant Dyskeratosis Congenita +
autosomal dominant Emery-Dreifuss muscular dystrophy 4
autosomal dominant Emery-Dreifuss muscular dystrophy 5
autosomal dominant Emery-Dreifuss muscular dystrophy 7
autosomal dominant endosteal hyperostosis
autosomal dominant familial periodic fever
autosomal dominant hyaline body myopathy
autosomal dominant hypocalcemia +
autosomal dominant hypophosphatemic rickets
autosomal dominant isolated ectopia lentis 1
autosomal dominant keratitis
autosomal dominant keratitis-ichthyosis-deafness syndrome
autosomal dominant limb-girdle muscular dystrophy +
autosomal dominant macrothrombocytopenia TUBB1-related
autosomal dominant mental retardation 55
autosomal dominant mental retardation 56
autosomal dominant microcephaly +
autosomal dominant nocturnal frontal lobe epilepsy +
autosomal dominant non-syndromic intellectual disability +
autosomal dominant nonsyndromic deafness +
autosomal dominant nonsyndromic deafness 65
autosomal dominant osteopetrosis 1
autosomal dominant osteopetrosis 2
autosomal dominant polycystic kidney disease +
autosomal dominant progressive external ophthalmoplegia 1
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
autosomal dominant pseudohypoaldosteronism type 1
autosomal dominant Robinow syndrome 1
autosomal dominant Robinow syndrome 2
autosomal dominant Robinow syndrome 3
autosomal dominant sensory ataxia 1
autosomal dominant sideroblastic anemia 4
autosomal dominant type IV Ehlers-Danlos syndrome +
autosomal dominant Wolfram syndrome
autosomal recessive cerebellar ataxia +
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract
Axenfeld-Rieger syndrome +
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Bannayan-Riley-Ruvalcaba syndrome
Beare-Stevenson cutis gyrata syndrome
Benign Cerebellar Ataxia with Thermoanalgesia
benign familial hematuria
Bhaskar Jagannathan Syndrome
bilateral optic nerve hypoplasia
blepharocheilodontic syndrome +
blepharophimosis, ptosis, and epicanthus inversus syndrome
Brachydactyly-Nystagmus-Cerebellar Ataxia
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Brown-Vialetto-Van Laere syndrome +
bullous congenital ichthyosiform erythroderma
Cardioauditory Syndrome of Sanchez Cascos
cardiofaciocutaneous syndrome 1
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 4
Carney-Stratakis syndrome
cataract 1 multiple types
cataract 10 multiple types
cataract 11 multiple types +
cataract 12 multiple types
cataract 13 with adult i phenotype
cataract 14 multiple types
cataract 15 multiple types
cataract 16 multiple types
cataract 17 multiple types
cataract 19 multiple types
cataract 2 multiple types
cataract 20 multiple types
cataract 21 multiple types
cataract 22 multiple types
cataract 26 multiple types
cataract 3 multiple types
cataract 31 multiple types
cataract 32 multiple types
cataract 34 multiple types
cataract 39 multiple types
cataract 4 multiple types +
cataract 46 juvenile-onset
cataract 5 multiple types
cataract 6 multiple types
cataract 8 multiple types
cataract 9 multiple types
Cataract and Congenital Ichthyosis
Cataract Congenital Dominant Non Nuclear
Cataract Microcornea Syndrome
Cataract, Age-Related Nuclear
Cataract, Autosomal Dominant Nuclear
Cataract, Autosomal Recessive Congenital 1
Cataract, Cortical Pulverulent, Late-Onset
Cataract, Crystalline Coralliform
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cataract, Polymorphic and Lamellar
Cataract, Posterior Polar, 5
Cataract, Progressive Polymorphic Cortical
Cataract, Sutural, with Punctate and Cerulean Opacities
Cataract, Variable Zonular Pulverulent
Cataract, Zonular Central Nuclear
Cataracts, Ataxia, Short Stature, and Mental Retardation
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cayman type cerebellar ataxia
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Neurosensory Deafness
Cerebellar Ataxia Ectodermal Dysplasia
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
Cerebellar Hypoplasia with Endosteal Sclerosis
Cerebellofaciodental Syndrome
Cerebelloparenchymal Disorder II
Cerebral Amyloidosis with Spongiform Encephalopathy +
cerebrocostomandibular syndrome
Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 4
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease axonal type 2CC
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2L
Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease axonal type 2T
Charcot-Marie-Tooth disease axonal type 2U
Charcot-Marie-Tooth disease axonal type 2V
Charcot-Marie-Tooth disease axonal type 2Z
Charcot-Marie-Tooth disease dominant intermediate A
Charcot-Marie-Tooth disease dominant intermediate B +
Charcot-Marie-Tooth disease dominant intermediate C
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate F
Charcot-Marie-Tooth disease dominant intermediate G
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A2 +
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2Y
Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 5
Charcot-Marie-Tooth disease, axonal type 2W
childhood onset GLUT1 deficiency syndrome 2
cleidocranial dysplasia +
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
COL4A1-related familial vascular leukoencephalopathy
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus
complex cortical dysplasia with other brain malformations +
congenital adrenal insufficiency
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Cataracts, Hearing Loss, and Neurodegeneration
congenital central hypoventilation syndrome
Congenital Deafness and Familial Myoclonic Epilepsy
Congenital Deafness, and Onychodystrophy, Autosomal Dominant
Congenital Deafness, with Vitiligo and Achalasia
congenital dyserythropoietic anemia type IV
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism
congenital muscular dystrophy due to LMNA mutation
congenital muscular dystrophy with cataracts and intellectual disability
congenital myasthenic syndrome 18
congenital myasthenic syndrome 1A
congenital myasthenic syndrome 1B
congenital myasthenic syndrome 2A
congenital myasthenic syndrome 3A
congenital myasthenic syndrome 4A
congenital myasthenic syndrome 7
Congenital Myopathy with Neuropathy and Deafness
congenital nongoitrous hypothyroidism 2
congenital nongoitrous hypothyroidism 3
congenital nongoitrous hypothyroidism 5
congenital nongoitrous hypothyroidism 6
congenital stationary night blindness autosomal dominant 1
congenital stationary night blindness autosomal dominant 2
congenital stationary night blindness autosomal dominant 3
Cornea Guttata with Anterior Polar Cataract
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
cortisone reductase deficiency 2
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
craniometaphyseal dysplasia +
Creutzfeldt-Jakob disease +
Crouzon syndrome-acanthosis nigricans syndrome
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
CST3-related cerebral amyloid angiopathy +
D-2-hydroxyglutaric aciduria 2
Davenport Donlan Syndrome
Deafness Hyperuricemia Neurologic Ataxia
Deafness with Anhidrotic Ectodermal Dysplasia
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Deafness, Congenital Onychodystrophy, Recessive Form
Deafness, with Smith-Magenis Syndrome
deafness-dystonia-optic neuronopathy syndrome
Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques
dextro-looped transposition of the great arteries 1
dextro-looped transposition of the great arteries 3
Diffuse Neurofibrillary Tangles with Calcification
dilated cardiomyopathy 1A
dilated cardiomyopathy 1AA
dilated cardiomyopathy 1B
dilated cardiomyopathy 1C
dilated cardiomyopathy 1CC
dilated cardiomyopathy 1D
dilated cardiomyopathy 1DD
dilated cardiomyopathy 1E
dilated cardiomyopathy 1HH
dilated cardiomyopathy 1II
dilated cardiomyopathy 1JJ
dilated cardiomyopathy 1KK
dilated cardiomyopathy 1NN
dilated cardiomyopathy 1R
dilated cardiomyopathy 1S
dilated cardiomyopathy 1U
dilated cardiomyopathy 1V
dilated cardiomyopathy 1Y
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
dominant optic atrophy plus syndrome
dominant pericentral pigmentary retinopathy
Doyne honeycomb retinal dystrophy
Duane-radial ray syndrome
dysplastic nevus syndrome +
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
epidermolysis bullosa simplex Dowling-Meara type
epidermolysis bullosa simplex generalized type +
epidermolysis bullosa simplex localized type
epidermolysis bullosa simplex Ogna type
epidermolysis bullosa simplex with mottled pigmentation
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 2
erythrokeratodermia variabilis et progressiva 3
exudative vitreoretinopathy 1
exudative vitreoretinopathy 3
exudative vitreoretinopathy 5
exudative vitreoretinopathy 6
exudative vitreoretinopathy 7
familial apolipoprotein A5 deficiency
familial cold autoinflammatory syndrome 1
familial cold autoinflammatory syndrome 2
familial cold autoinflammatory syndrome 4
familial encephalopathy with neuroserpin inclusion bodies
familial erythrocytosis 1
familial erythrocytosis 3
familial erythrocytosis 5
familial hemiplegic migraine 1
familial hypocalciuric hypercalcemia +
familial partial lipodystrophy type 2
familial partial lipodystrophy type 3
familial partial lipodystrophy type 4
familial progressive hyperpigmentation with or without hypopigmentation
familial temporal lobe epilepsy 1
familial temporal lobe epilepsy 2
familial temporal lobe epilepsy 3
familial temporal lobe epilepsy 4
familial temporal lobe epilepsy 5
familial temporal lobe epilepsy 6
familial temporal lobe epilepsy 7
familial temporal lobe epilepsy 8
Fanconi anemia complementation group R
fibrodysplasia ossificans progressiva
focal segmental glomerulosclerosis 1
focal segmental glomerulosclerosis 2
focal segmental glomerulosclerosis 5
focal segmental glomerulosclerosis 7
focal segmental glomerulosclerosis 8
Frontotemporal Lobar Degeneration +
Furukawa Takagi Nakao Syndrome
giant axonal neuropathy 2
gnathodiaphyseal dysplasia
granular corneal dystrophy +
Greig cephalopolysyndactyly syndrome
GRN-related frontotemporal lobar degeneration with TDP43 inclusions
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
hand-foot-genital syndrome
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
hereditary breast ovarian cancer syndrome
hereditary hemorrhagic telangiectasia +
hereditary multiple exostoses +
hereditary neuropathy with liability to pressure palsies
hereditary sensory and autonomic neuropathy type 1A
hereditary sensory and autonomic neuropathy type 1C
hereditary sensory and autonomic neuropathy type 7
hereditary sensory neuropathy type 1B
hereditary sensory neuropathy type 1D
hereditary sensory neuropathy type 1E
hereditary sensory neuropathy type 1F
hereditary spastic paraplegia 10
hereditary spastic paraplegia 12
hereditary spastic paraplegia 13
hereditary spastic paraplegia 17
hereditary spastic paraplegia 19
hereditary spastic paraplegia 24
hereditary spastic paraplegia 29
hereditary spastic paraplegia 31
hereditary spastic paraplegia 33
hereditary spastic paraplegia 36
hereditary spastic paraplegia 37
hereditary spastic paraplegia 38
hereditary spastic paraplegia 3A
hereditary spastic paraplegia 4
hereditary spastic paraplegia 41
hereditary spastic paraplegia 42
hereditary spastic paraplegia 6
hereditary spastic paraplegia 72
hereditary spastic paraplegia 73
hereditary spastic paraplegia 8
hereditary spastic paraplegia 9A
hereditary spherocytosis type 1
hereditary spherocytosis type 2
hereditary spherocytosis type 4
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
Huntington's disease-like 2
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
hyper IgE recurrent infection syndrome 1
hyperalphalipoproteinemia 1
hyperferritinemia-cataract syndrome
Hyperlipoproteinemia Type II, and Deafness
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS
hypertension and brachydactyly syndrome
Hypertrophic Neuropathy and Cataract
hypogonadotropic hypogonadism 14 with or without anosmia
hypogonadotropic hypogonadism 15 with or without anosmia
hypogonadotropic hypogonadism 16 with or without anosmia
hypogonadotropic hypogonadism 17 with or without anosmia
hypogonadotropic hypogonadism 18 with or without anosmia
hypogonadotropic hypogonadism 19 with or without anosmia
hypogonadotropic hypogonadism 2 with or without anosmia +
hypogonadotropic hypogonadism 20 with or without anosmia
hypogonadotropic hypogonadism 21 with or without anosmia
hypogonadotropic hypogonadism 3 with or without anosmia
hypogonadotropic hypogonadism 4 with or without anosmia
hypogonadotropic hypogonadism 5 with or without anosmia +
hypogonadotropic hypogonadism 6 with or without anosmia
hypogonadotropic hypogonadism 9 with or without anosmia
hypomyelinating leukodystrophy 5
hypomyelinating leukodystrophy 6
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Ichthyosiform Erythroderma, Corneal Involvement, Deafness
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
inflammatory bowel disease 21
inflammatory bowel disease 3
intellectual disability-severe speech delay-mild dysmorphism syndrome
intrahepatic cholestasis of pregnancy 1
intrahepatic cholestasis of pregnancy 3
iridogoniodysgenesis syndrome +
ischiocoxopodopatellar syndrome
isolated elevated serum creatine phosphokinase levels
isolated microphthalmia 7
Isolated Microphthalmia with Cataract 1
Isolated Microphthalmia with Cataract 2
Isolated Microphthalmia with Cataract 3
Isolated Microphthalmia with Cataract 4
ITM2B-related cerebral amyloid angiopathy 1
ITM2B-related cerebral amyloid angiopathy 2 A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. (DO)
Jansen's metaphyseal chondrodysplasia
Johnson Neuroectodermal Syndrome
juvenile amyotrophic lateral sclerosis with dementia
Juvenile Cataract, with Microcornea and Glucosuria
juvenile polyposis syndrome +
Karandikar Maria Kamble Syndrome
Kohlschutter Tonz Syndrome
Konigsmark Knox Hussels Syndrome
Kozlowski Rafinski Klicharska Syndrome
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy
lateral meningocele syndrome
lattice corneal dystrophy +
Leber congenital amaurosis 11
Leber congenital amaurosis 13
Leg, Absence Deformity of, with Congenital Cataract
Lenz-Majewski hyperostotic dwarfism
Lipodystrophy with Congenital Cataracts and Neurodegeneration
lymphedema-distichiasis syndrome +
Lynch Lee Murday syndrome
macrocephaly-autism syndrome
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
mandibulofacial dysostosis, Guion-Almeida type
Marinesco-Sjogren syndrome
maturity-onset diabetes of the young +
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
melanoma and neural system tumor syndrome
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Meyenburg-Altherr-Uehlinger Syndrome
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Deafness Syndrome
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
Microphthalmia, Cataracts, and Iris Abnormalities
Microphthalmia, Syndromic 2
Miller-Dieker lissencephaly syndrome
mitochondrial DNA depletion syndrome 12a
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Miura type epiphyseal chondrodysplasia
Motor Neuron Disease with Dementia and Ophthalmoplegia
Mousa Al din Al Nassar Syndrome
Mullerian aplasia and hyperandrogenism
multicentric carpotarsal osteolysis syndrome
multiple cutaneous and mucosal venous malformations
Multiple Endocrine Neoplasia +
multiple epiphyseal dysplasia 1
multiple epiphyseal dysplasia 2
multiple epiphyseal dysplasia 3
multiple epiphyseal dysplasia 5
multiple epiphyseal dysplasia 6
multiple epiphyseal dysplasia with myopia and deafness
Multiple Synostoses Syndrome 1
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders
Myoclonus, Cerebellar Ataxia, and Deafness
Myopathy, Cataract, Hypogonadism Syndrome
Myopia, High, with Cataract and Vitreoretinal Degeneration
Nephrosis Deafness Urinary Tract Digital Malformation
nephrotic syndrome type 4
Neuhauser Eichner Opitz Syndrome
neurodegeneration with brain iron accumulation 3
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
nevoid basal cell carcinoma syndrome +
Noninsulin-Dependent Diabetes Mellitus with Deafness
nonprogressive cerebellar ataxia with mental retardation
O'Donnell Pappas Syndrome
ocular albinism with sensorineural deafness
Oculoskeletodental Syndrome
Opitz GBBB Syndrome, Type II
Opticocochleodentate Degeneration
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
osteogenesis imperfecta type 1
osteogenesis imperfecta type 2 +
osteogenesis imperfecta type 3
osteogenesis imperfecta type 4
osteogenesis imperfecta type 5
Pallister-Hall syndrome +
palmoplantar keratoderma and congenital alopecia 2
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
Pavone Fiumara Rizzo Syndrome
permanent neonatal diabetes mellitus +
Peters Anomaly with Cataract
photosensitive trichothiodystrophy +
Polycystic Kidney, Cataract, and Congenital Blindness
polycystic liver disease +
popliteal pterygium syndrome +
posterior polymorphous corneal dystrophy 1
posterior polymorphous corneal dystrophy 2
Premature Aging, Okamoto Type
Presenile Dementia, Kraepelin Type
primary failure of tooth eruption
Primary Progressive Aphasia +
progressive familial heart block type IA
progressive familial heart block type IB
progressive familial heart block type II
progressive myoclonus epilepsy 7
punctate palmoplantar keratoderma type III
Ramos Arroyo Clark Syndrome
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
retinitis pigmentosa-deafness syndrome
Ribbonlike Corneal Degeneration with Deafness
Rubinstein-Taybi syndrome +
Schaap Taylor Baraitser Syndrome
Schimke X-Linked Mental Retardation Syndrome
Schlegelberger Grote Syndrome
Secretory Diarrhea, Myopathy, and Deafness
selective pituitary thyroid hormone resistance
sepiapterin reductase deficiency
short-rib thoracic dysplasia 9 with or without polydactyly
Singh Chhaparwal Dhanda Syndrome
Sinoatrial Node Dysfunction and Deafness
Slavotinek Pike Mills Hurst Syndrome
solitary median maxillary central incisor
Sorsby's fundus dystrophy
Spastic Paraplegia, Optic Atrophy, and Dementia
speech-language disorder-1
split hand-foot malformation 1
split hand-foot malformation 4
spondyloepimetaphyseal dysplasia, Missouri type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation
Spondyloocular Syndrome, Autosomal Recessive
STING-associated vasculopathy with onset in infancy
tarsal-carpal coalition syndrome
temtamy preaxial brachydactyly syndrome
Thiel-Behnke corneal dystrophy
tibial muscular dystrophy
torsion dystonia with onset in infancy
transthyretin amyloidosis
Treacher Collins syndrome +
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
type 1 diabetes mellitus 2
Ullrich congenital muscular dystrophy +
uveal coloboma-cleft lip and palate-intellectual disability
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
Wellesley Carmen French Syndrome
X-Linked Mental Retardation Gustavson Type
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness
Yemenite Deaf-Blind Hypopigmentation Syndrome
Zonular Cataract and Nystagmus
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