Microcephaly micropenis convulsions

Summary

Microcephaly micropenis convulsions (MONDO:0043133) is a disease. A subtype of visual epilepsy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	microcephaly micropenis convulsions
Mondo ID	MONDO:0043133
MeSH	C537540
UMLS	C2931525
MedGen	444076
GARD	0003628
Is cancer (heuristic)	no

Also known as: microcephaly micropenis convulsions · microcephaly micropenis seizures · microcephaly seizures genital hypoplasia

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › visual pathway disorder › visual cortex disorder › visual epilepsy › microcephaly micropenis convulsions

Related subtypes (1): microcephaly sparse hair intellectual disability seizures

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.