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3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Absence of Tibia with Congenital Deafness
Albinism Deafness Syndrome
Alves Castelo dos Santos Syndrome
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Aplasia Cutis Congenita of Limbs Recessive
Aplasia Cutis Congenita with Intestinal Lymphangiectasia
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
Arthrogryposis and Ectodermal Dysplasia
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant nonsyndromic deafness 65
Branchiogenic-Deafness Syndrome
Cardioauditory Syndrome of Sanchez Cascos
cardiofaciocutaneous syndrome +
cartilage-hair hypoplasia
Cerebellar Ataxia and Ectodermal Dysplasia
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
cleft lip-palate-ectodermal dysplasia syndrome
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
Congenital Deafness and Familial Myoclonic Epilepsy
Congenital Deafness, with Vitiligo and Achalasia
Congenital Ectodermal Dysplasia with Hearing Loss
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
Congenital Myopathy with Neuropathy and Deafness
cranioectodermal dysplasia +
Davenport Donlan Syndrome
Deafness Hyperuricemia Neurologic Ataxia
Deafness with Anhidrotic Ectodermal Dysplasia
Deafness, Autosomal Dominant, due to Mutation In Myo1a
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Deafness, Congenital Onychodystrophy, Recessive Form
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
Deafness, with Smith-Magenis Syndrome
Dermatoosteolysis Kirghizian Type
dermatopathia pigmentosa reticularis
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Ectodermal Dysplasia Adrenal Cyst
Ectodermal Dysplasia and Neurosensory Deafness
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia, Mental Retardation, Syndactyly
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Ectodermal Dysplasia, Trichoodontoonychial Type
Ectodermal Dysplasia-Skin Fragility Syndrome
Ectodermal Dysplasia-Syndactyly Syndrome +
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
Ellis-Van Creveld syndrome +
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Euhidrotic Ectodermal Dysplasia
Focal Facial Dermal Dysplasia +
Freire-Maia Odontotrichomelic Syndrome
Halal Setton Wang Syndrome
Hay Wells Syndrome Recessive Type
hereditary spastic paraplegia 24
Hidrotic Ectodermal Dysplasia, Autosomal Recessive
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
high myopia-sensorineural deafness syndrome
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
Hyperlipoproteinemia Type II, and Deafness
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS
hypohidrotic ectodermal dysplasia +
Hypokalemic Tubulopathy and Deafness
ITM2B-related cerebral amyloid angiopathy 2
Johanson-Blizzard syndrome
Johnson Neuroectodermal Syndrome
Jones Hersh Yusk Syndrome
junctional epidermolysis bullosa with pyloric atresia
Keratitis-Ichthyosis-Deafness Syndrome +
Konigsmark Knox Hussels Syndrome
Ladda Zonana Ramer Syndrome
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
linear skin defects with multiple congenital anomalies 2
Lynch Lee Murday syndrome
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
Meyenburg-Altherr-Uehlinger Syndrome
Microcephaly Deafness Syndrome
multiple synostoses syndrome 1
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders
Myoclonus, Cerebellar Ataxia, and Deafness
Naegeli-Franceschetti-Jadassohn syndrome
NEMO Mutation with Immunodeficiency
Nephrosis with Deafness and Urinary Tract and Digital Malformations
Neurocutaneous Syndromes +
Noninsulin-Dependent Diabetes Mellitus with Deafness
nonsyndromic aplasia cutis congenita
Odontomicronychial Dysplasia
Odontoonychodermal Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
Opticocochleodentate Degeneration
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
Papillon-Lefevre disease +
photosensitive trichothiodystrophy 1
Pinheiro Freire-Maia Miranda Syndrome
pure hair and nail ectodermal dysplasia +
Ramos Arroyo Clark Syndrome
Ribbonlike Corneal Degeneration with Deafness
Robinson Miller Bensimon Syndrome
Rosselli-Gulienetti Syndrome
scalp-ear-nipple syndrome
Schimke X-Linked Mental Retardation Syndrome
Schinzel Giedion syndrome
Schlegelberger Grote Syndrome
Schopf-Schulz-Passarge syndrome
Secretory Diarrhea, Myopathy, and Deafness
Seres-Santamaria Arimany Muniz Syndrome
Sinoatrial Node Dysfunction and Deafness
spastic paraplegia with deafness
Taurodontia, Absent Teeth, Sparse Hair
temtamy preaxial brachydactyly syndrome
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
Trichoodontoonychial Dysplasia
Trueb Burg Bottani Syndrome
X-linked mental retardation Gustavson type
X-linked mental retardation-hypotonic facies syndrome-1
X-linked retinitis pigmentosa and sinorespiratory infections
Yemenite Deaf-Blind Hypopigmentation Syndrome
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