neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
MONDO:0032855Mondo
Findings
No curated finding names neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 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
- Infantile onset
HPO, annotations 2026-09-02
Features
59 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.
- Intellectual disabilityHPOHP:0001249
- 19 of 19 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 15 of 17 reported patients
- Motor delayHPOHP:0001270
- 12 of 16 reported patients
- Growth delayHPOHP:0001510
- 10 of 16 reported patients
- HypotoniaHPOHP:0001252
- 10 of 16 reported patients
- Joint hypermobilityHPOHP:0001382
- 8 of 18 reported patients
- Hearing impairmentHPOHP:0000365
- 4 of 19 reported patients
- SeizureHPOHP:0001250
- 3 of 18 reported patients
- Pectus excavatumHPOHP:0000767
- 1 of 17 reported patients
- 2-3 toe syndactylyHPOHP:0004691
- Aggressive behaviorHPOHP:0000718
- AmblyopiaHPOHP:0000646
Show the remaining 47
- AstigmatismHPOHP:0000483
- Attention deficit hyperactivity disorderHPOHP:0007018
- Autistic behaviorHPOHP:0000729
- BrachydactylyHPOHP:0001156
- Broad halluxHPOHP:0010055
- Cerebellar atrophyHPOHP:0001272
- Cerebral atrophyHPOHP:0002059
- ColobomaHPOHP:0000589
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.
- ZMIZ1HGNC:16493
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019