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Accessory Deep Peroneal Nerve
Apical Hypertrophic Cardiomyopathy and Neuropathy
arthrogryposis multiplex congenita +
Asrar Facharzt Haque Syndrome
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
autoimmune disease of peripheral nervous system +
autonomic nervous system disease +
Axial Myopathy, Late-Onset +
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
Branchial Arch Syndrome X-Linked
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Carey-Fineman-Ziter syndrome +
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis +
Chanarin-Dorfman syndrome +
chromosome 6pter-p24 deletion syndrome
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus
complex regional pain syndrome +
Conductive Hearing Loss +
Cone-Rod Dystrophy and Hearing Loss +
Congenital Cataracts, Hearing Loss, and Neurodegeneration
Congenital Myopathy with Neuropathy and Deafness
Congenital Pain Insensitivity +
Congenital Universal Muscular Hypoplasia of Krabbe
Craniomandibular Disorders +
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness-Craniofacial Syndrome
Ehlers-Danlos syndrome kyphoscoliotic type 2
eosinophilia-myalgia syndrome
Erythrocyte Amp Deaminase Deficiency
Erythrocyte Lactate Transporter Defect
familial periodic paralysis +
Fingerprint Body Myopathy
Gamstorp-Wohlfart syndrome
Granulovacuolar Lobular Myopathy with Electrical Myotonia
Hand-Arm Vibration Syndrome
Hearing Loss, Mixed Conductive-Sensorineural +
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
High-Frequency Hearing Loss +
Hypertrophia Musculorum Vera
Hypertrophic Neuropathy and Cataract
Inherited Peripheral Neuropathy +
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy
Internal Anal Sphincter Myopathy
Iris Dysplasia Hypertelorism Deafness
Kocher-Debre-Semelaigne Syndrome
Late-Onset Carnitine Palmitoyltransferase II Deficiency
lumbosacral plexus lesion
Marinesco-Sjogren syndrome
Medial Tibial Stress Syndrome
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microtia, Hearing Impairment, and Cleft Palate
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
mitochondrial DNA depletion syndrome 6
Mitochondrial DNA Depletion Syndrome, Myopathic Form +
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
myofascial pain syndrome +
Myopathic Carnitine Deficiency
Myopathy with Lactic Acidosis, Hereditary
nerve compression syndrome +
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
Odontochondrodysplasia 2 with Hearing Loss and Diabetes
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
Osteootohepatoenteric Syndrome
Pectoralis Muscle, Absence of
Peripheral Nerve Injuries
peripheral nervous system neoplasm +
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
Proximal Myopathy with Focal Depletion of Mitochondria
Reardon Wilson Cavanagh Syndrome
sensorineural hearing loss +
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Singleton Merten Syndrome +
Skeletal Muscle Reperfusion Injury
Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
syndromic X-linked intellectual disability Abidi type
systemic primary carnitine deficiency disease
Tel Hashomer Camptodactyly Syndrome
Treft Sanborn Carey Syndrome
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Unilateral Hearing Loss +
Uruguay faciocardiomusculoskeletal syndrome
uveal coloboma-cleft lip and palate-intellectual disability
very long chain acyl-CoA dehydrogenase deficiency
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