rare X-linked recessive mutation in the NSDHL gene can cause CHILD syndrome and CK syndrome

Which enzymes are involved?

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

CK SYNDROME

Disease	CK SYNDROME
Synonym	MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION
OMIM	300831 OMIM = Online Mendelian Inheritance of Men
Orphanet	251383
Protein (UniProt)	Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
Gene locus	Xq28
ICD
Summary	rare X-linked recessive mutation in the NSDHL gene can cause CHILD syndrome and CK syndrome
Laboratory findings	4α-methylsterols inc (plasma) 7-Dehydrocholesterol inc (plasma)
Symptoms	behavior, aggressive cognitive impairment dysmorphism hypotonia intellectual disability/intellectual developmental disorder irritability mental retardation microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, childhood onset, infancy optic atrophy scoliosis seizures skeletal changes, skeletal abnormalities speech difficulties strabismus