neurodevelopmental disorder with speech impairment and with or without seizures
MONDO:0859313Mondo
Findings
No curated finding names neurodevelopmental disorder with speech impairment and with or without seizures 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 · Middle age onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
20 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.
- Intellectual disabilityHPOHP:0001249
- 5 of 6 reported patients
- Absent speechHPOHP:0001344
- 3 of 4 reported patients
- SeizureHPOHP:0001250
- 4 of 6 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 3 of 6 reported patients
- Feeding difficultiesHPOHP:0011968
- 3 of 6 reported patients
- HypotoniaHPOHP:0001252
- 3 of 6 reported patients
- Severe global developmental delayHPOHP:0011344
- 3 of 6 reported patients
- Hearing impairmentHPOHP:0000365
- 2 of 6 reported patients
- Inability to walkHPOHP:0002540
- 2 of 6 reported patients
- Brain atrophyHPOHP:0012444
- 1 of 4 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 4 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 4 reported patients
Show the remaining 8
- Central sleep apneaHPOHP:0010536
- 1 of 6 reported patients
- DepressionHPOHP:0000716
- 1 of 6 reported patients
- DroolingHPOHP:0002307
- 1 of 6 reported patients
- Exaggerated startle responseHPOHP:0002267
- 1 of 6 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 1 of 6 reported patients
- Macrodontia of permanent maxillary central incisorHPOHP:0000675
- 1 of 6 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.
- CACNA1IHGNC:1396
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023