microcephaly-capillary malformation syndrome
MONDO:0013659Mondo
Findings
No curated finding names microcephaly-capillary malformation syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
13 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.
- Capillary malformationHPOHP:0025104
- 10 of 10 reported patients
- Extra-axial cerebrospinal fluid accumulationHPOHP:0012510
- 9 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 10 of 10 reported patients
- Progressive microcephalyHPOHP:0000253
- 10 of 10 reported patients
- SeizureHPOHP:0001250
- 10 of 10 reported patients · Infantile onset
- Simplified gyral patternHPOHP:0009879
- 9 of 9 reported patients
- Hypoplastic hippocampusHPOHP:0025517
- 6 of 7 reported patients
- Spastic tetraparesisHPOHP:0001285
- 8 of 10 reported patients
- Optic atrophyHPOHP:0000648
- 6 of 8 reported patients
- Small for gestational ageHPOHP:0001518
- 7 of 10 reported patients
- CNS hypomyelinationHPOHP:0003429
- 5 of 8 reported patients
- MyoclonusHPOHP:0001336
- 6 of 10 reported patients
Show the remaining 1
- Infantile spasmsHPOHP:0012469
- 4 of 9 reported patients
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.
- STAMBPHGNC:16950
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: microcephaly-capillary malformation syndrome
- Also called
- MIC-CAP syndromeMIC-CM syndromemicrocephaly-cutaneous capillary malformation syndrome