periventricular nodular heterotopia 9
MONDO:0030061Mondo
Findings
No curated finding names periventricular nodular heterotopia 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
34 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.
- Broad-based gaitHPOHP:0002136
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Everted upper lip vermilionHPOHP:0010803
- 1 of 1 reported patient
- Gingival overgrowthHPOHP:0000212
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Gray matter heterotopiaHPOHP:0002282
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- HirsutismHPOHP:0001007
- 1 of 1 reported patient
- Hypoplastic philtrumHPOHP:0005326
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- MicrotiaHPOHP:0008551
- 1 of 1 reported patient
Show the remaining 22
- Posteriorly rotated earsHPOHP:0000358
- 1 of 1 reported patient
- Prominent fingertip padsHPOHP:0001212
- 1 of 1 reported patient
- Prominent metopic ridgeHPOHP:0005487
- 1 of 1 reported patient
- Single transverse palmar creaseHPOHP:0000954
- 1 of 1 reported patient
- Squared superior portion of helixHPOHP:0030026
- 1 of 1 reported patient
- SynophrysHPOHP:0000664
- 1 of 1 reported patient
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.
- MAP1BHGNC:6836
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: periventricular nodular heterotopia 9
- Also called
- PVNH9