developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
MONDO:0030835Mondo
Findings
No curated finding names developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 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
22 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 gross motor developmentHPOHP:0002194
- 19 of 20 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 20 of 22 reported patients
- Intellectual disabilityHPOHP:0001249
- 18 of 20 reported patients
- Short statureHPOHP:0004322
- 18 of 20 reported patients
- Pigmentary retinopathyHPOHP:0000580
- 5 of 6 reported patients
- Abnormal facial shapeHPOHP:0001999
- 16 of 20 reported patients
- MicrocephalyHPOHP:0000252
- 15 of 20 reported patients
- Peripheral axonal neuropathyHPOHP:0003477
- 11 of 15 reported patients
- HypotoniaHPOHP:0001252
- 11 of 16 reported patients
- Hearing impairmentHPOHP:0000365
- 11 of 19 reported patients
- AreflexiaHPOHP:0001284
- 8 of 25 reported patients
- HyperreflexiaHPOHP:0001347
- 6 of 25 reported patients
Show the remaining 10
- HyporeflexiaHPOHP:0001265
- 6 of 25 reported patients
- SpasticityHPOHP:0001257
- 5 of 25 reported patients
- Cerebral atrophyHPOHP:0002059
- 4 of 21 reported patients
- ScoliosisHPOHP:0002650
- 4 of 25 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 3 of 21 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 21 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.
- MORC2HGNC:23573
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
- Also called
- DIGFAN