microcephaly 31, primary, autosomal recessive
MONDO:0980991Mondo
Findings
No curated finding names microcephaly 31, primary, autosomal recessive 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
- Infantile onset · Fetal onset
HPO, annotations 2026-09-02
Features
27 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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Anti-thyroid peroxidase antibody positivityHPOHP:0025379
- 2 of 2 reported patients
- Autoimmune hypoparathyroidismHPOHP:0011771
- 2 of 2 reported patients
- Celiac diseaseHPOHP:0002608
- 1 of 1 reported patient
- Decreased testicular sizeHPOHP:0008734
- 1 of 1 reported patient
- Postnatal growth retardationHPOHP:0008897
- 5 of 5 reported patients
- Secondary microcephalyHPOHP:0005484
- 5 of 5 reported patients
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Shawl scrotumHPOHP:0000049
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 5 reported patients
- Specific learning disabilityHPOHP:0001328
- 3 of 4 reported patients
Show the remaining 15
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- 3 of 5 reported patients
- Abnormal cerebellar peduncle morphologyHPOHP:0011931
- 1 of 2 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 1 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 2 reported patients
- Hypoplasia of the ponsHPOHP:0012110
- 1 of 2 reported patients
- Simplified gyral patternHPOHP:0009879
- 1 of 2 reported patients