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Acroosteolysis dominant type
arthrogryposis, distal, type 2B3
autoinflammation with episodic fever and lymphadenopathy
autosomal dominant Alport syndrome
autosomal dominant brachyolmia
autosomal dominant cataract
autosomal dominant centronuclear myopathy
autosomal dominant cerebellar ataxia +
autosomal dominant chondrodysplasia punctata +
autosomal dominant coarctation of aorta
autosomal dominant complex spastic paraplegia +
autosomal dominant cutis laxa +
autosomal dominant distal myopathy +
autosomal dominant distal renal tubular acidosis
autosomal dominant Ehlers-Danlos syndrome, vascular type
autosomal dominant Emery-Dreifuss muscular dystrophy +
autosomal dominant epidermolytic ichthyosis +
autosomal dominant hereditary sensory and autonomic neuropathy
autosomal dominant hypocalcemia +
autosomal dominant hypohidrotic ectodermal dysplasia +
autosomal dominant hypophosphatemic rickets
autosomal dominant ichthyosis vulgaris +
autosomal dominant intermediate Charcot-Marie-Tooth disease +
autosomal dominant Kenny-Caffey syndrome
autosomal dominant keratitis Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia.
autosomal dominant keratitis-ichthyosis-hearing loss syndrome
autosomal dominant medullary cystic kidney disease with or without hyperuricemia +
autosomal dominant myoglobinuria
autosomal dominant nonsyndromic hearing loss +
autosomal dominant oculocutaneous albinism
autosomal dominant omodysplasia
autosomal dominant optic atrophy +
autosomal dominant osteopetrosis +
Autosomal dominant polycystic kidney disease +
autosomal dominant polycystic liver disease +
autosomal dominant popliteal pterygium syndrome
autosomal dominant primary microcephaly +
autosomal dominant progressive external ophthalmoplegia +
autosomal dominant proximal renal tubular acidosis
autosomal dominant proximal spinal muscular atrophy
autosomal dominant pure spastic paraplegia
autosomal dominant rhegmatogenous retinal detachment
autosomal dominant Robinow syndrome
autosomal dominant secondary polycythemia
autosomal dominant severe congenital neutropenia +
autosomal dominant sideroblastic anemia
autosomal dominant spastic ataxia +
autosomal dominant spondylocostal dysostosis
autosomal dominant titinopathy +
autosomal dominant vibratory urticaria
Bannayan-Riley-Ruvalcaba syndrome
Beare-Stevenson cutis gyrata syndrome
Birt-Hogg-Dube syndrome +
blepharocheilodontic syndrome +
blepharophimosis, ptosis, and epicanthus inversus syndrome +
branchio-oto-renal syndrome
branchiooculofacial syndrome
breast-ovarian cancer, familial, susceptibility to, 1
Brooke-Spiegler syndrome +
cataract-aberrant oral frenula-growth delay syndrome
charcot-marie-tooth disease, axonal, type 2DD
cochleosaccular degeneration-cataract syndrome
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
corneal dystrophy, punctiform and polychromatic pre-descemet
corneal endothelial dystrophy +
corneal neovascularization
Crouzon syndrome-acanthosis nigricans syndrome
diffuse nonepidermolytic palmoplantar keratoderma
distal arthrogryposis type 2B1
Duane-radial ray syndrome +
dyskeratosis congenita, autosomal dominant 2
dyskeratosis congenita, autosomal dominant 3
early-onset autosomal dominant Alzheimer disease +
Ehlers-Danlos syndrome, classic type +
epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
epilepsy, early-onset, with or without developmental delay
epithelial and subepithelial corneal dystrophy +
epithelial-stromal TGFBI dystrophy +
generalized juvenile polyposis/juvenile polyposis coli
glass-chapman-hockley syndrome
GUCY2D-related dominant retinopathy +
hand-foot-genital syndrome
heart-hand syndrome, Slovenian type
hereditary breast ovarian cancer syndrome
hereditary hemorrhagic telangiectasia +
Houge-Janssens syndrome 2
hyper-IgE recurrent infection syndrome 1, autosomal dominant
hyperkeratosis-hyperpigmentation syndrome
hypopigmentation-punctate palmoplantar keratoderma syndrome
inclusion body myopathy and brain white matter abnormalities
intellectual developmental disorder 60 with seizures
intellectual developmental disorder with impaired language and dysmorphic facies
intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
intellectual developmental disorder with speech delay, autism and dysmorphic facies
intellectual disability, autosomal dominant +
intellectual disability, autosomal dominant 14
intellectual disability, autosomal dominant 16
intellectual disability, autosomal dominant 29
intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
isolated congenital adermatoglyphia
juvenile cataract-microcornea-renal glucosuria syndrome
macrocephaly-autism syndrome
mandibulofacial dysostosis-microcephaly syndrome
melanoma, cutaneous malignant, susceptibility to, 2
Menke-Hennekam syndrome 1
Menke-Hennekam syndrome 2
microcephalic osteodysplastic dysplasia, Saul-Wilson type
multiple cutaneous and mucosal venous malformations
multiple endocrine neoplasia type 1
multiple endocrine neoplasia type 2A
multiple endocrine neoplasia type 2B
multiple endocrine neoplasia type 4
muscular dystrophy, limb-girdle, autosomal dominant +
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
neurodevelopmental disorder with macrocephaly and with or without seizures
neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
neurohypophyseal diabetes insipidus
neuronopathy, distal hereditary motor, autosomal dominant +
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome
NOG-related symphalangism spectrum disorder +
Noonan syndrome with multiple lentigines
palmoplantar keratoderma-spastic paralysis syndrome
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
posterior corneal dystrophy +
pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
retinoschisis, autosomal dominant
Scapuloperoneal spinal muscular atrophy
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Snijders Blok-Campeau syndrome
Snijders Blok-Fisher syndrome
sodium channelopathy-related small fiber neuropathy
spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant
spondyloepimetaphyseal dysplasia with multiple dislocations
spondyloepiphyseal dysplasia tarda, autosomal dominant
stromal corneal dystrophy +
superficial corneal dystrophy +
thanatophoric dysplasia type 1
thrombophilia due to protein S deficiency, autosomal dominant
Treacher-Collins syndrome +
trichorhinophalangeal syndrome type I or III
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome, type III
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
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