Noonan syndrome-like disorder with loose anagen hair 2
MONDO:0054588Mondo
Findings
No curated finding names Noonan syndrome-like disorder with loose anagen hair 2 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 · Fetal onset
HPO, annotations 2026-09-02
Features
78 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.
- Coarse hairHPOHP:0002208
- 1 of 1 reported patient
- CraniosynostosisHPOHP:0001363
- 1 of 1 reported patient
- Deep philtrumHPOHP:0002002
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 18 of 18 reported patients
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
- MacrocephalyHPOHP:0000256
- 4 of 4 reported patients
- Narrow foreheadHPOHP:0000341
- 1 of 1 reported patient
- Pectus carinatumHPOHP:0000768
- 1 of 1 reported patient
- PolyhydramniosHPOHP:0001561
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Sparse hairHPOHP:0008070
- 1 of 1 reported patient
Show the remaining 66
- Sparse lateral eyebrowHPOHP:0005338
- 1 of 1 reported patient
- Ventricular septal defectHPOHP:0001629
- 1 of 1 reported patient · Congenital onset
- Wide intermamillary distanceHPOHP:0006610
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 4 of 5 reported patients
- Failure to thriveHPOHP:0001508
- 6 of 8 reported patients
- Feeding difficultiesHPOHP:0011968
- 3 of 4 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.
- PPP1CBHGNC:9282
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025