neurodevelopmental disorder with poor language and loss of hand skills
MONDO:0060659Mondo
Findings
No curated finding names neurodevelopmental disorder with poor language and loss of hand skills 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
HPO, annotations 2026-09-02
Features
7 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Autistic behaviorHPOHP:0000729
- 1 of 1 reported patient
- Developmental stagnationHPOHP:0007281
- 1 of 1 reported patient
- Inappropriate cryingHPOHP:0030215
- 1 of 1 reported patient
- Recurrent hand flappingHPOHP:0100023
- 1 of 1 reported patient
- Severe intellectual disabilityHPOHP:0010864
- 1 of 1 reported patient
- Sleep-wake cycle disturbanceHPOHP:0006979
- 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.
- GABBR2HGNC:4507
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025