neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
MONDO:0030852Mondo
Findings
No curated finding names neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 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
HPO, annotations 2026-09-02
Features
38 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.
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients · Male
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 3 of 3 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 3 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 3 reported patients
- Flat faceHPOHP:0012368
- 2 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 3 reported patients
- Round faceHPOHP:0000311
- 2 of 3 reported patients
- Sleep disturbanceHPOHP:0002360
- 2 of 3 reported patients
- HypospadiasHPOHP:0000047
- 1 of 2 reported patients · Male
- Almond-shaped palpebral fissureHPOHP:0007874
- 1 of 3 reported patients
Show the remaining 26
- Bulbous noseHPOHP:0000414
- 1 of 3 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 3 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 3 reported patients
- Dysplastic corpus callosumHPOHP:0006989
- 1 of 3 reported patients
- Dysplastic pulmonary valveHPOHP:0005164
- 1 of 3 reported patients
- EpiblepharonHPOHP:0011225
- 1 of 3 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.
- KAT5HGNC:5275
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- Also called
- NEDFASB