Hiatt-Neu-Cooper neurodevelopmental syndrome
MONDO:0859142Mondo
Findings
No curated finding names Hiatt-Neu-Cooper neurodevelopmental syndrome 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
22 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.
- Autistic behaviorHPOHP:0000729
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 11 of 11 reported patients
- Global developmental delayHPOHP:0001263
- 11 of 11 reported patients
- Intellectual disabilityHPOHP:0001249
- 8 of 8 reported patients
- HypotoniaHPOHP:0001252
- 10 of 11 reported patients
- Delayed ability to walkHPOHP:0031936
- 8 of 11 reported patients
- Absent speechHPOHP:0001344
- 7 of 11 reported patients
- SeizureHPOHP:0001250
- 6 of 11 reported patients
- ClinodactylyHPOHP:0030084
- 3 of 6 reported patients
- 2-3 toe syndactylyHPOHP:0004691
- 2 of 6 reported patients
- Anteverted naresHPOHP:0000463
- EpicanthusHPOHP:0000286
Show the remaining 10
- Exaggerated cupid's bowHPOHP:0002263
- Horizontal eyebrowHPOHP:0011228
- Low-set earsHPOHP:0000369
- Pointed chinHPOHP:0000307
- Posteriorly rotated earsHPOHP:0000358
- Prominent foreheadHPOHP:0011220
- PtosisHPOHP:0000508
- Short philtrumHPOHP:0000322
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.
- RALAHGNC:9839
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025