neurodevelopmental disorder with microcephaly and dysmorphic facies
MONDO:0032942Mondo
Findings
No curated finding names neurodevelopmental disorder with microcephaly 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
37 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
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Hearing impairmentHPOHP:0000365
- 2 of 2 reported patients
- Highly arched eyebrowHPOHP:0002553
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
- Pointed chinHPOHP:0000307
- 2 of 2 reported patients
- Primary microcephalyHPOHP:0011451
- 2 of 2 reported patients · Congenital onset
- Simplified gyral patternHPOHP:0009879
- 1 of 1 reported patient
- Smooth philtrumHPOHP:0000319
- 2 of 2 reported patients
- BrachycephalyHPOHP:0000248
- 1 of 2 reported patients
- Bulbous noseHPOHP:0000414
- 1 of 2 reported patients
Show the remaining 25
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 2 reported patients
- Deeply set eyeHPOHP:0000490
- 1 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 1 of 2 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 2 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 2 reported patients
- EpicanthusHPOHP:0000286
- 1 of 2 reported patients
Genes
2 genes
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.
- SPOPHGNC:11254
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
- Moderate · Illumina · Autosomal dominant · 2020
- Moderate · ClinGen · Autosomal dominant · 2025
- LMBRD2HGNC:25287
- Moderate · Franklin by Genoox · Autosomal dominant · 2020
Where it sits
Other names
1 name
Resolves to: neurodevelopmental disorder with microcephaly and dysmorphic facies
- Also called
- nabais sa-de vries syndrome, type 1