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GENATLAS PHENOTYPE

last update : 30-09-2020

Symbol	HPDLD
Location	1p34.1
Name	HPDL deficiency
Other name(s)	Cerebral palsy, spastic quadriplegic 1 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Corresponding gene	HPDL
Other symbol(s)	CPSQ1, NEDSWMA
Main clinical features	primary feature range from severe spastic movement disorders with onset in infancy to uncomplicated juvenile-onset hereditary spastic paraplegia (HSP) spastic movement disorder with broad clinical variability motor developmental delay, intellectual impairment, microcephaly, and seizures/epilepsy elevated lactate in blood histology of skeletal muscle displayed fiber size variation
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
	mental retardation
Type	disease

Remark(s)

. missense variant c.149G>A (p.Gly50Asp) is consistently associated with isolated spastic paraplegia evolving in the second decade of life and currently no additional pathologies (PMID: 32707086))