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3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Absence of Tibia with Congenital Deafness
Albinism Deafness Syndrome
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death
autosomal dominant cerebellar ataxia +
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant nonsyndromic deafness 65
autosomal recessive cerebellar ataxia +
Benign Cerebellar Ataxia with Thermoanalgesia
Brachydactyly-Nystagmus-Cerebellar Ataxia
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
Branchiogenic-Deafness Syndrome
Cardioauditory Syndrome of Sanchez Cascos
Cerebellar Ataxia and Ectodermal Dysplasia
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Cerebellar Ataxia and Neurosensory Deafness
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
cerebellofaciodental syndrome
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus
Congenital Deafness and Familial Myoclonic Epilepsy
Congenital Deafness, with Vitiligo and Achalasia
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation
Congenital Myopathy with Neuropathy and Deafness
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
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
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Familial Convulsive Disorder with Prenatal or Early Onset
familial hemiplegic migraine 1
Feigenbaum Bergeron Richardson Syndrome
Furukawa Takagi Nakao Syndrome
hereditary spastic paraplegia 24
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
Hypokalemic Tubulopathy and Deafness
hypomyelinating leukodystrophy 8
ITM2B-related cerebral amyloid angiopathy 2
Johnson Neuroectodermal Syndrome
Keratitis-Ichthyosis-Deafness Syndrome +
Konigsmark Knox Hussels Syndrome
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
Lynch Lee Murday syndrome
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
Meyenburg-Altherr-Uehlinger Syndrome
Microcephaly Deafness Syndrome
Mitochondrial Myopathy, and Ataxia
multiple synostoses syndrome 1
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders
Myoclonus, Cerebellar Ataxia, and Deafness
Neonatal Intractable Myoclonus
Nephrosis with Deafness and Urinary Tract and Digital Malformations
Neuhauser Eichner Opitz Syndrome
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE
Noninsulin-Dependent Diabetes Mellitus with Deafness
Opsoclonus-Myoclonus Syndrome +
Opticocochleodentate Degeneration
Progressive External Ophthalmoplegia with Myoclonus
Ramos Arroyo Clark Syndrome
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA
Ribbonlike Corneal Degeneration with Deafness
Schimke X-Linked Mental Retardation Syndrome
Schlegelberger Grote Syndrome
Secretory Diarrhea, Myopathy, and Deafness
short-rib thoracic dysplasia 9 with or without polydactyly
Sinoatrial Node Dysfunction and Deafness
spastic paraplegia with deafness
temtamy preaxial brachydactyly 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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