microcephaly 20, primary, autosomal recessive
MONDO:0054761Mondo
Findings
No curated finding names microcephaly 20, 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
- Neonatal onset · Childhood onset · Second trimester onset
HPO, annotations 2026-09-02
Features
18 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.
- Severe intellectual disabilityHPOHP:0010864
- 5 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 7 of 9 reported patients
- StrabismusHPOHP:0000486
- 4 of 6 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 2 of 6 reported patients
- MicrophthalmiaHPOHP:0000568
- 2 of 6 reported patients
- Optic nerve hypoplasiaHPOHP:0000609
- 2 of 6 reported patients
- Hypoplasia of the uterusHPOHP:0000013
- 2 of 7 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 2 of 8 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 9 reported patients
- Ureteral agenesisHPOHP:0012300
- 2 of 9 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 6 reported patients
- Vaginal atresiaHPOHP:0000148
- 1 of 7 reported patients
Show the remaining 6
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 8 reported patients
- ArrhinencephalyHPOHP:0002139
- 1 of 8 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 8 reported patients
- MicrolissencephalyHPOHP:0045028
- 1 of 8 reported patients
- Bilateral renal agenesisHPOHP:0010958
- 1 of 9 reported patients
- Renal hypoplasiaHPOHP:0000089
- 1 of 9 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.
- KIF14HGNC:19181
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2019