neurodevelopmental disorder with hypotonia and brain abnormalities
MONDO:0859187Mondo
Findings
No curated finding names neurodevelopmental disorder with hypotonia and brain abnormalities 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
82 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.
- Delayed fine motor developmentHPOHP:0010862
- 8 of 8 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 8 of 8 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Feeding difficultiesHPOHP:0011968
- 8 of 9 reported patients
- HypotoniaHPOHP:0001252
- 7 of 9 reported patients
- StrabismusHPOHP:0000486
- 5 of 9 reported patients
- Failure to thriveHPOHP:0001508
- 4 of 9 reported patients
- Autistic behaviorHPOHP:0000729
- 3 of 7 reported patients
- Absent speechHPOHP:0001344
- 3 of 8 reported patients
- Abnormal dentate nucleus morphologyHPOHP:0100321
- 3 of 9 reported patients
Show the remaining 70
- AnxietyHPOHP:0000739
- 3 of 9 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 3 reported patients · Male
- Downslanted palpebral fissuresHPOHP:0000494
- 3 of 9 reported patients
- Hypoplasia of the ponsHPOHP:0012110
- 3 of 9 reported patients
- Self-injurious behaviorHPOHP:0100716
- 3 of 9 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 9 reported patients · Childhood onset
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.
- CLCN3HGNC:2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Moderate · Broad Center for Mendelian Genomics · Autosomal dominant · 2018