SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION (SPEMR)

Question 1

What is  SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION (SPEMR)?

Accepted Answer

very rare

autosomal dominant

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 182610

Question 3

Which enzymes are involved?

Accepted Answer

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Disease	SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION (SPEMR)
OMIM	182610 OMIM = Online Mendelian Inheritance of Men
Orphanet	2816
ExPASy	---
Gene locus
ICD	---
Summary	very rare autosomal dominant
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	cataract epilepsy gastroesophageal reflux mental retardation muscle weakness onset, childhood onset, infancy seizures spastic paraplegia vomiting