neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
MONDO:0032820Mondo
Findings
No curated finding names neurodevelopmental disorder with structural brain anomalies 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
HPO, annotations 2026-09-02
Features
26 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.
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- HypertelorismHPOHP:0000316
- 11 of 11 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 11 of 11 reported patients
- Hypoplastic female external genitaliaHPOHP:0012815
- 1 of 1 reported patient
- Long eyelashesHPOHP:0000527
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- Midface retrusionHPOHP:0011800
- 1 of 1 reported patient
- ProptosisHPOHP:0000520
- 1 of 1 reported patient
- Severe intellectual disabilityHPOHP:0010864
- 5 of 5 reported patients
Show the remaining 14
- Short noseHPOHP:0003196
- 1 of 1 reported patient
- Wide nasal bridgeHPOHP:0000431
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 4 of 5 reported patients
- SeizureHPOHP:0001250
- 3 of 6 reported patients
- ScoliosisHPOHP:0002650
- 2 of 5 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 4 reported patients · Male
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.
- RAC3HGNC:9803
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2019