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Metadata
ID DOID:0060801
Name MEHMO syndrome
Definition A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1.
https://www.ncbi.nlm.nih.gov/pubmed/12032729, https://www.ncbi.nlm.nih.gov/pubmed/9781023
Xrefs

MESH:C537451

OMIM:300148

ORDO:85282

SNOMEDCT_US_2019_09_01:722037004

UMLS_CUI:C1846278

Synonyms

mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity [EXACT]

MRXS20 [EXACT]

MRXS25 [EXACT]

syndromic X-linked mental retardation 20 [EXACT]

syndromic X-linked mental retardation 25 [EXACT]

X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a syndromic X-linked intellectual disability

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