microcephaly, growth deficiency, seizures, and brain malformations
MONDO:0032690Mondo
Findings
No curated finding names microcephaly, growth deficiency, seizures, and brain malformations yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
24 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.
- Absent speechHPOHP:0001344
- 2 of 2 reported patients
- Alveolar ridge overgrowthHPOHP:0009085
- 2 of 2 reported patients
- Brisk reflexesHPOHP:0001348
- 2 of 2 reported patients
- Decreased body weightHPOHP:0004325
- 2 of 2 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- EEG abnormalityHPOHP:0002353
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Flexion contractureHPOHP:0001371
- 2 of 2 reported patients
- High foreheadHPOHP:0000348
- 2 of 2 reported patients
- HypertoniaHPOHP:0001276
- 2 of 2 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 2 reported patients · Fetal onset
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
Show the remaining 12
- Partial agenesis of the corpus callosumHPOHP:0001338
- 2 of 2 reported patients
- Profound global developmental delayHPOHP:0012736
- 2 of 2 reported patients
- ProptosisHPOHP:0000520
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- Short philtrumHPOHP:0000322
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 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.
- WDR4HGNC:12756
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of