CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1 (CPSQ1)

Question 1

What is  CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1 (CPSQ1)?

Accepted Answer

rare

autosomal recessive

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 603513

Question 3

Which enzymes are involved?

Accepted Answer

Glutamate decarboxylase 1

Disease	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1 (CPSQ1)
OMIM	603513 OMIM = Online Mendelian Inheritance of Men
Orphanet	210141
Protein (UniProt)	Glutamate decarboxylase 1
ExPASy	4.1.1.15
Gene locus	2q31.1
ICD	G11.4
Summary	rare autosomal recessive
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	contractures, joints hyperreflexia hypertonia, spasticity mental retardation microcephaly (<2 SD for age) onset, infancy scoliosis spastic diplegia/quadriplegia/tetraplegia