SOX11-related complex neurodevelopmental disorder with or without congenital anomalies

disease

On this page

Also known as intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism

Summary

SOX11-related complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100626) is a disease. A subtype of complex neurodevelopmental disorder with or without congenital anomalies — 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	SOX11-related complex neurodevelopmental disorder with or without congenital anomalies
Mondo ID	MONDO:0100626
GARD	0028004
Is cancer (heuristic)	no

Also known as: intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism

Disease family

This is a subtype of complex neurodevelopmental disorder with or without congenital anomalies. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › neurodevelopmental disorder › complex neurodevelopmental disorder › complex neurodevelopmental disorder with or without congenital anomalies › SOX11-related complex neurodevelopmental disorder with or without congenital anomalies

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.

Associated genes: SOX11