developmental delay with or without dysmorphic facies and autism
MONDO:0032760Mondo
Findings
No curated finding names developmental delay with or without dysmorphic facies and autism 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
- Childhood onset
HPO, annotations 2026-09-02
Features
47 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.
- Compulsive behaviorsHPOHP:0000722
- 1 of 1 reported patient
- Delayed fine motor developmentHPOHP:0010862
- 1 of 1 reported patient
- Delayed gross motor developmentHPOHP:0002194
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 24 of 24 reported patients
- HallucinationsHPOHP:0000738
- 1 of 1 reported patient
- PsychosisHPOHP:0000709
- 1 of 1 reported patient · Juvenile onset
- Intellectual disabilityHPOHP:0001249
- 17 of 20 reported patients
- Feeding difficultiesHPOHP:0011968
- 8 of 24 reported patients
- HypotoniaHPOHP:0001252
- 8 of 24 reported patients
- Nail dysplasiaHPOHP:0002164
- 8 of 24 reported patients
- Short statureHPOHP:0004322
- 7 of 23 reported patients
- MicrocephalyHPOHP:0000252
- 7 of 24 reported patients
Show the remaining 35
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 6 of 24 reported patients
- HydronephrosisHPOHP:0000126
- 6 of 24 reported patients
- Autistic behaviorHPOHP:0000729
- 6 of 25 reported patients
- Cleft lipHPOHP:0410030
- 5 of 24 reported patients · Congenital onset
- Cleft palateHPOHP:0000175
- 5 of 24 reported patients
- Lower limb hyperreflexiaHPOHP:0002395
- 5 of 24 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.
- TRRAPHGNC:12347
- Definitive · Illumina · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019
Where it sits
- A kind of