microcephaly 27, primary, autosomal dominant
MONDO:0030929Mondo
Findings
No curated finding names microcephaly 27, primary, autosomal dominant 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
- Congenital onset
HPO, annotations 2026-09-02
Features
18 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.
- Delayed ability to walkHPOHP:0031936
- 5 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Primary microcephalyHPOHP:0011451
- 6 of 6 reported patients · Congenital onset
- Chronic constipationHPOHP:0012450
- 2 of 5 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 5 reported patients
- Short fingerHPOHP:0009381
- 2 of 5 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 3 reported patients
- MicropenisHPOHP:0000054
- 1 of 3 reported patients
- DroolingHPOHP:0002307
- 1 of 5 reported patients
- Extra-axial cerebrospinal fluid accumulationHPOHP:0012510
- 1 of 5 reported patients
- Hip subluxationHPOHP:0030043
- 1 of 5 reported patients
Show the remaining 6
- Joint hypermobilityHPOHP:0001382
- 1 of 5 reported patients
- Metatarsus adductusHPOHP:0001840
- 1 of 5 reported patients
- Simplified gyral patternHPOHP:0009879
- 1 of 5 reported patients
- Tapered fingerHPOHP:0001182
- 1 of 5 reported patients
- TrigonocephalyHPOHP:0000243
- 1 of 5 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 5 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.
- LMNB2HGNC:6638
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: microcephaly 27, primary, autosomal dominant
- Also called
- MCPH27