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Alopecia Universalis, Onychodystrophy, Vitiligo
Ameloonychohypohidrotic Syndrome
Anonychia Onychodystrophy
Anonychia with Flexural Pigmentation
anterior segment dysgenesis 4
arterial tortuosity syndrome
Atrophia Maculosa Varioliformis Cutis, Familial
Autoinflammation with Arthritis and Dyskeratosis
autosomal dominant congenital deafness with onychodystrophy
autosomal recessive congenital ichthyosis +
autosomal recessive pericentral pigmentary retinopathy
Bamforth-Lazarus syndrome
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
Bird Headed Dwarfism Montreal Type
blepharocheilodontic syndrome +
Bloch-Sulzberger syndrome +
Bork Stender Schmidt Syndrome
Brachycephaly, Trichomegaly, and Developmental Delay
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
bullous congenital ichthyosiform erythroderma
Buschke-Ollendorff syndrome
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma
Carabelli Anomaly of Maxillary Molar Teeth
Cartwright Nelson Fryns Syndrome
Chang Davidson Carlson Syndrome
Chromosome Xp11.3 Deletion Syndrome
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
Concentric Annular Macular Dystrophy
Cone Dystrophy, X-Linked, with Tapetal-like Sheen
Cone Rod Dystrophy Amelogenesis Imperfecta
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
Copper Deficiency, Familial Benign
Craniosynostosis and Dental Anomalies
Curly Hair-Acral Keratoderma-Caries Syndrome
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome
Cutaneous Bullous Amyloidosis
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Defect in Hyaluronan Metabolism
dental enamel hypoplasia +
dentinogenesis imperfecta +
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis
dominant pericentral pigmentary retinopathy
Double Nail for Fifth Toe
dyschromatosis universalis hereditaria +
epidermolytic hyperkeratosis +
erythrokeratodermia variabilis +
Euhidrotic Ectodermal Dysplasia
familial isolated trichomegaly
Familial Reactive Perforating Collagenosis
familial woolly hair syndrome +
Furukawa Takagi Nakao Syndrome
geroderma osteodysplasticum
Gorlin Bushkell Jensen Syndrome
Grubben de Cock Borghgraef Syndrome
Hereditary Autoinflammatory Diseases +
hereditary mucosal leukokeratosis
Hereditary Sclerosing Poikiloderma +
Histiocytic Dermatoarthritis
hyaline fibromatosis syndrome
Hypospadias-Mental Retardation Syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
isolated microphthalmia 5
Juvenile Spring Eruption of Ears
Kaler Garrity Stern Syndrome
Katsantoni Papadakou Lagoyanni Syndrome
Keratolytic Winter Erythema
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
Kozlowski-Krajewska Syndrome
late-adult onset retinitis pigmentosa
Leber congenital amaurosis 14
Leber congenital amaurosis 3
Lethal Faciocardiomelic Dysplasia
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Light Fixation Seizure Syndrome
Macular Dystrophy with Central Cone Involvement
Mammary-Digital-Nail Syndrome
Martinez Monasterio Pinheiro Syndrome
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
Mirhosseini-Holmes-Walton Syndrome
Multiple Noduli Cutanei with Urinary Tract Abnormalities
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
Newfoundland cone-rod dystrophy
nonsyndromic congenital nail disorder +
oculodentodigital dysplasia +
Oculoskeletodental Syndrome
Odontomicronychial Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
Oliver-McFarlane syndrome
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
Onychotrichodysplasia and Neutropenia
Oroacral Syndrome, Verloes-Koulischer Type
orofaciodigital syndrome IX
Otoonychoperoneal Syndrome
Parana Hard Skin Syndrome
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts
Peripheral Cone Dystrophy
photosensitive trichothiodystrophy 1
Pigmentary Retinopathy and Sensorineural Deafness
Pili Torti Onychodysplasia
Pinheiro Freire-Maia Miranda Syndrome
plasminogen deficiency type I
poikiloderma with neutropenia
Postaxial Polydactyly, with Dental and Vertebral Anomalies
Posterior Column Ataxia with Retinitis Pigmentosa
primary cutaneous amyloidosis +
progressive osseous heteroplasia
Progressive Pallidal Degeneration with Retinitis Pigmentosa
Progressive Vitiligo with Mental Retardation and Urethral Duplication
Pseudofolliculitis Barbae
pseudoxanthoma elasticum +
pure hair and nail ectodermal dysplasia +
Radioulnar Synostosis Retinal Pigment Abnormalities
retinal cone dystrophy 3A
retinal cone dystrophy 3B
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
Retinitis Pigmentosa Inversa with Deafness
retinitis pigmentosa with or without situs inversus
Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium
retinitis pigmentosa Y-linked
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Retinitis Pigmentosa, Late-Onset Dominant
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
Rothmund-Thomson syndrome +
Schinzel-Giedion Syndrome
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
short-rib thoracic dysplasia 9 with or without polydactyly
Sjogren-Larsson syndrome +
Skin Fragility-Woolly Hair Syndrome
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation
spinocerebellar ataxia type 34
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition
spondylometaphyseal dysplasia with cone-rod dystrophy
Steatocystoma Multiplex with Natal Teeth
Tapetoretinal Degeneration with Ataxia
Taurodontism, Microdontia, and Dens Invaginatus
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum
Temple-Baraitser syndrome
temtamy preaxial brachydactyly syndrome
Total Anonychia with Microcephaly
Tricho-Dento-Osseous Syndrome 1
trichodontoosseous syndrome
Trichodysplasia-Xeroderma
trichohepatoenteric syndrome +
Trichohepatoneurodevelopmental Syndrome
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type III
Ulnar Hypoplasia with Mental Retardation
Uncombable Hair Syndrome +
Vohwinkel Syndrome, Variant Form
Weyers acrofacial dysostosis
White Forelock with Malformations
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 2
X-linked cone-rod dystrophy 3
X-linked reticulate pigmentary disorder
X-linked retinitis pigmentosa and sinorespiratory infections
Zazam Sheriff Phillips Syndrome
Zori Stalker Williams Syndrome
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