intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Findings
No curated finding names intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).
Definition from the Mondo Disease Ontology (MONDO:0014606), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Antenatal onset
HPO, annotations 2026-09-02
Features
157 features
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.
- Cerebellar hypoplasiaHPOHP:0001321
- 9 of 9 reported patients
- Delayed fine motor developmentHPOHP:0010862
- 16 of 16 reported patients
- VentriculomegalyHPOHP:0002119
- 10 of 10 reported patients
- Global developmental delayHPOHP:0001263
- 87 of 88 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 88 of 91 reported patients
- Very frequent (80% to 99% of cases)
Genes
1 gene
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.
- POGZHGNC:18801
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · Illumina · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
- Also called
- autosomal dominant intellectual disability 37intellectual disability, autosomal dominant type 37mental retardation, autosomal dominant type 37MRD37WHSUS