/motor developmental delay due to 14q32.2 paternally expressed gene defect

motor developmental delay due to 14q32.2 paternally expressed gene defect

Rare Disease

MONDO:0014541

Also Known As

mUPD14 syndromematernal uniparental disomy chromosome 14 syndromeTEMPLE syndromeuniparental disomy, maternal, chromosome 14

A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

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MONDO:0000179

inclusion body myopathy with Paget disease of bone and frontotemporal dementia

MONDO:0000507

syndromic intellectual disability

MONDO:0000508

abdominal obesity-metabolic syndrome

MONDO:0000816

fibrogenesis imperfecta ossium

MONDO:0000849

Fanconi renotubular syndrome

MONDO:0001083