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MEHMO

Chr XXLR

mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome

MEHMO syndrome is an X-linked recessive disorder characterized by mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity, typically manifesting in early childhood. The underlying molecular basis involves mutations in a gene that affects multiple developmental and metabolic pathways. Males are primarily affected due to the X-linked inheritance pattern, while carrier females are typically unaffected or mildly affected.

OMIMResearchSummary from OMIM
XLR1 OMIM phenotype
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MEHMO?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MEHMO · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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