neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
MONDO:0859190Mondo
Findings
No curated finding names neurodevelopmental-craniofacial syndrome with variable renal and cardiac 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
- Infantile onset
HPO, annotations 2026-09-02
Features
71 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.
- Global developmental delayHPOHP:0001263
- 9 of 19 reported patients
- EpicanthusHPOHP:0000286
- 6 of 19 reported patients
- Autistic behaviorHPOHP:0000729
- 5 of 19 reported patients
- Atrial septal defectHPOHP:0001631
- 4 of 19 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 19 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 19 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 3 of 19 reported patients
- HypertelorismHPOHP:0000316
- 3 of 19 reported patients
- HypotoniaHPOHP:0001252
- 3 of 19 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 8 reported patients · Male
- Hydrocele testisHPOHP:0000034
- 1 of 8 reported patients · Male
- Abnormal palmar crease morphologyHPOHP:0010490
- 2 of 19 reported patients
Show the remaining 59
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 19 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 19 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 19 reported patients
- Joint hypermobilityHPOHP:0001382
- 2 of 19 reported patients
- Low-set earsHPOHP:0000369
- 2 of 19 reported patients
- MicrotiaHPOHP:0008551
- 2 of 19 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.
- ZMYM2HGNC:12989
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
- Also called
- ZMYM2-related neurodevelopmental disorder with multiple anomalies