developmental delay with dysmorphic facies and dental anomalies
MONDO:0030988Mondo
Findings
No curated finding names developmental delay with dysmorphic facies and dental anomalies 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
14 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.
- Global developmental delayHPOHP:0001263
- 35 of 36 reported patients
- Motor delayHPOHP:0001270
- 34 of 37 reported patients
- Intellectual disabilityHPOHP:0001249
- 28 of 31 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 32 of 36 reported patients
- EEG abnormalityHPOHP:0002353
- 19 of 24 reported patients
- HypotoniaHPOHP:0001252
- 28 of 37 reported patients
- Atypical behaviorHPOHP:0000708
- 24 of 34 reported patients
- SeizureHPOHP:0001250
- 22 of 36 reported patients
- Sleep disturbanceHPOHP:0002360
- 12 of 29 reported patients
- DysarthriaHPOHP:0001260
- 6 of 20 reported patients
- SpasticityHPOHP:0001257
- 10 of 36 reported patients
- MicrocephalyHPOHP:0000252
- 7 of 31 reported patients
Show the remaining 2
- AtaxiaHPOHP:0001251
- 6 of 27 reported patients
- Developmental regressionHPOHP:0002376
- 6 of 35 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.
- SATB1HGNC:10541
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: developmental delay with dysmorphic facies and dental anomalies
- Also called
- DEFDA