ZFIN Human Disease: MEHMO syndrome

OBO ID: DOID:0060801

Term Name:	MEHMO syndrome		Search Ontology:
Synonyms:	mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity MRXS20 MRXS25 syndromic X-linked mental retardation 20 syndromic X-linked mental retardation 25 X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity 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. (2)
References:	MESH:C537451 OMIM:300148 ORDO:85282 SNOMEDCT_US_2023_03_01:722037004 UMLS_CUI:C1846278
Ontology:	Human Disease ( DOID:0060801 )

Relationships

is a type of:	syndromic X-linked intellectual disability X-linked recessive disease syndromic X-linked intellectual disability X-linked recessive disease Show first 5 Terms

OTHER MEHMO syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EIF2S3	eif2s3	MEHMO syndrome	300148

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None