neurodevelopmental disorder with speech impairment and dysmorphic facies
MONDO:0033630Mondo
Findings
No curated finding names neurodevelopmental disorder with speech impairment and dysmorphic facies 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 · Childhood onset
HPO, annotations 2026-09-02
Features
36 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
- 14 of 14 reported patients
- Global developmental delayHPOHP:0001263
- 14 of 15 reported patients
- Motor delayHPOHP:0001270
- 13 of 14 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 6 reported patients
- Generalized hypotoniaHPOHP:0001290
- 9 of 15 reported patients
- Sleep disturbanceHPOHP:0002360
- 7 of 12 reported patients
- Joint hypermobilityHPOHP:0001382
- 7 of 13 reported patients
- EpicanthusHPOHP:0000286
- 7 of 15 reported patients
- High foreheadHPOHP:0000348
- 7 of 15 reported patients
- Recurrent infectionsHPOHP:0002719
- 7 of 15 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 6 of 15 reported patients
- HypertelorismHPOHP:0000316
- 6 of 15 reported patients
Show the remaining 24
- Visual impairmentHPOHP:0000505
- 6 of 15 reported patients
- Wide noseHPOHP:0000445
- 6 of 15 reported patients
- Chronic constipationHPOHP:0012450
- 3 of 8 reported patients
- Feeding difficultiesHPOHP:0011968
- 3 of 8 reported patients
- Aggressive behaviorHPOHP:0000718
- 5 of 14 reported patients
- Short attention spanHPOHP:0000736
- 5 of 14 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.
- SETD1AHGNC:29010
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: neurodevelopmental disorder with speech impairment and dysmorphic facies
- Also called
- NEDSID