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GENATLAS PHENOTYPE

last update : 03-06-2009

Symbol	PCH1
Location	14q32.2
Name	pontocerebellar hypoplasia 1
Other name(s)	spinal muscular atrophy with pontocerebellar hypoplasia
Corresponding gene	VRK1
Other symbol(s)	SMA-PCH
Main clinical features	microcephaly with poor sucking developmental delay, upper limb ataxia, brisk deep tendon reflexes (DTRs), and bilateral equinovarus; at EMG, nerve conduction velocity (NCV), and somatosensory evoked potential (SEP) consistent with motor and sensory neuropathy due to chronic denervation brain MRI showed a small cerebellar vermis and a large cisterna magna, compatible with cerebellar hypoplasia
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)