microcephaly 26, primary, autosomal dominant
MONDO:0030928Mondo
Findings
No curated finding names microcephaly 26, 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
- Infantile onset · Antenatal onset
HPO, annotations 2026-09-02
Features
38 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
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 13 of 13 reported patients
- MicrocephalyHPOHP:0000252
- 13 of 13 reported patients
- Short statureHPOHP:0004322
- 6 of 7 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 6 reported patients
- Feeding difficultiesHPOHP:0011968
- 5 of 7 reported patients
- ScoliosisHPOHP:0002650
- 4 of 7 reported patients
- SeizureHPOHP:0001250
- 7 of 13 reported patients
- Simplified gyral patternHPOHP:0009879
- 4 of 9 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 3 of 7 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 3 of 7 reported patients
- Dysplastic corpus callosumHPOHP:0006989
- 2 of 6 reported patients
Show the remaining 26
- Extra-axial cerebrospinal fluid accumulationHPOHP:0012510
- 1 of 3 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 6 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 3 reported patients
- Absent speechHPOHP:0001344
- 2 of 7 reported patients
- Axial hypotoniaHPOHP:0008936
- 2 of 7 reported patients
- Gingival overgrowthHPOHP:0000212
- 2 of 7 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.
- LMNB1HGNC:6637
- Definitive · G2P · Autosomal dominant · 2020
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: microcephaly 26, primary, autosomal dominant
- Also called
- MCPH26