short stature and microcephaly with genital anomalies
MONDO:0032875Mondo
Findings
No curated finding names short stature and microcephaly with genital anomalies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive 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.
- Decreased body weightHPOHP:0004325
- 2 of 2 reported patients
- Delayed thelarcheHPOHP:0025515
- 1 of 1 reported patient · Female
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 2 reported patients
- Dysharmonic delayed bone ageHPOHP:0005832
- 2 of 2 reported patients
- HypermetropiaHPOHP:0000540
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- MicropenisHPOHP:0000054
- 1 of 1 reported patient · Male
- PhimosisHPOHP:0001741
- 1 of 1 reported patient · Male
- Severe short statureHPOHP:0003510
- 2 of 2 reported patients
- Convex nasal ridgeHPOHP:0000444
- 1 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 2 reported patients · Infantile onset
- Feeding difficultiesHPOHP:0011968
- 1 of 2 reported patients
Show the remaining 10
- Gastroesophageal refluxHPOHP:0002020
- 1 of 2 reported patients
- Genu valgumHPOHP:0002857
- 1 of 2 reported patients
- Hypoplastic fingernailHPOHP:0001804
- 1 of 2 reported patients
- Narrow faceHPOHP:0000275
- 1 of 2 reported patients
- Narrow mouthHPOHP:0000160
- 1 of 2 reported patients
- Prominent noseHPOHP:0000448
- 1 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.
- CENPTHGNC:25787
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of