neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
MONDO:0957588Mondo
Findings
No curated finding names neurodevelopmental disorder with impaired language, behavioral abnormalities, 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
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
82 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.
- AnhydramniosHPOHP:0025700
- 2 of 2 reported patients
- AsthmaHPOHP:0002099
- 2 of 2 reported patients
- AstigmatismHPOHP:0000483
- 2 of 2 reported patients
- BrachydactylyHPOHP:0001156
- 2 of 2 reported patients
- Breech presentationHPOHP:0001623
- 2 of 2 reported patients
- Broad foreheadHPOHP:0000337
- 6 of 6 reported patients
- Broad halluxHPOHP:0010055
- 2 of 2 reported patients
- Bulbous noseHPOHP:0000414
- 2 of 2 reported patients
- Cafe-au-lait spotHPOHP:0000957
- 2 of 2 reported patients
- Chronic bronchitisHPOHP:0004469
- 2 of 2 reported patients
- ClinodactylyHPOHP:0030084
- 2 of 2 reported patients
- Crumpled earHPOHP:0009901
- 2 of 2 reported patients
Show the remaining 70
- Cupped earHPOHP:0000378
- 2 of 2 reported patients
- Cutis marmorataHPOHP:0000965
- 2 of 2 reported patients
- Deeply set eyeHPOHP:0000490
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 20 of 20 reported patients
- Depressed nasal tipHPOHP:0000437
- 2 of 2 reported patients
- DrowsinessHPOHP:0002329
- 2 of 2 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.
- UBAP2LHGNC:29877
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2022