neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
MONDO:0968945Mondo
Findings
No curated finding names neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder 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 · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
34 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 speech and language developmentHPOHP:0000750
- 12 of 12 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 9 of 11 reported patients
- Autistic behaviorHPOHP:0000729
- 9 of 12 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 12 reported patients
- Hearing impairmentHPOHP:0000365
- 3 of 12 reported patients
- StrabismusHPOHP:0000486
- 3 of 12 reported patients
- AstigmatismHPOHP:0000483
- 2 of 12 reported patients
- Cafe-au-lait spotHPOHP:0000957
- 2 of 12 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 2 of 12 reported patients
- Long faceHPOHP:0000276
- 2 of 12 reported patients
- Obstructive sleep apneaHPOHP:0002870
- 2 of 12 reported patients
- Prominent fingertip padsHPOHP:0001212
- 2 of 12 reported patients
Show the remaining 22
- Thin upper lip vermilionHPOHP:0000219
- 2 of 12 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 12 reported patients
- AnxietyHPOHP:0000739
- 1 of 12 reported patients
- Broad nasal tipHPOHP:0000455
- 1 of 12 reported patients
- Cleft earlobeHPOHP:0011265
- 1 of 12 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 12 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.
- CAPRIN1HGNC:6743
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Moderate · G2P · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2026