Noonan syndrome-like disorder with loose anagen hair 1
MONDO:0054637Mondo
Findings
No curated finding names Noonan syndrome-like disorder with loose anagen hair 1 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
58 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.
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 1 reported patient
- Broad foreheadHPOHP:0000337
- 7 of 7 reported patients
- Failure to thriveHPOHP:0001508
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Joint hypermobilityHPOHP:0001382
- 5 of 5 reported patients
- Long eyelashesHPOHP:0000527
- 4 of 4 reported patients
- Loose anagen hairHPOHP:0040169
- 22 of 22 reported patients
- Relative macrocephalyHPOHP:0004482
- 8 of 8 reported patients
- Short statureHPOHP:0004322
- 8 of 8 reported patients
- Sparse hairHPOHP:0008070
- 8 of 8 reported patients
- Sparse scalp hairHPOHP:0002209
- 25 of 25 reported patients
- Low-set earsHPOHP:0000369
- 30 of 33 reported patients
Show the remaining 46
- MacrocephalyHPOHP:0000256
- 27 of 30 reported patients
- Prominent foreheadHPOHP:0011220
- 26 of 29 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 22 of 25 reported patients
- Delayed ability to walkHPOHP:0031936
- 7 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 27 of 32 reported patients
- Generalized hypotoniaHPOHP:0001290
- 4 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.
- SHOC2HGNC:15454
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: Noonan syndrome-like disorder with loose anagen hair 1
- Also called
- Noonan syndrome-like with loose anagen hair 1NSLH1