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Summary
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (MDCCAID, INPP5K))
617404
OMIM = Online Medalian Inheritance of Men
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17p13.3
rare
autosomal recessive
mutation in the INPP5K gene
symptoms
cataract
contractures, joints
defect of walking, running, rising or climbing
developmental delay
hyperreflexia
hypotonia
joint laxity
microcephaly (<2 SD for age)
muscle weakness
muscular dystrophy
onset, childhood
onset, infancy
onset, neonatal
respiratory insufficiency
seizures
short stature
skoliosis, kyphoskoliosis
strabismus
laboratory finding
Creatine kinase U/lserum
Literature
Ardissone A,et al.Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of LiteratureJIMD Rep220115-1202015
Sperl W,et al.Deficiency of mitochondrial ATP synthase of nuclear genetic originNeuromuscul Disord1612821-8292006
Kunii M,et al.A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutationJ Hum Genet604187-1912015