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

Findings

No curated finding names intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Neonatal onset · Childhood onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• autosomal dominant disease
• Coffin-Siris syndrome

Resolves to: intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism

Also called

autosomal dominant intellectual disability 27Coffin-Siris syndrome 9CSS9intellectual disability, autosomal dominant 27intellectual disability, autosomal dominant type 27mental retardation, autosomal dominant type 27MRD27