growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
MONDO:0859146Mondo
Findings
No curated finding names growth restriction, hypoplastic kidneys, alopecia, and distinctive facies 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
32 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.
- Abdominal obesityHPOHP:0012743
- 4 of 4 reported patients
- AlopeciaHPOHP:0001596
- 4 of 4 reported patients
- AzotemiaHPOHP:0002157
- 4 of 4 reported patients
- Convex nasal ridgeHPOHP:0000444
- 4 of 4 reported patients
- Decreased testicular sizeHPOHP:0008734
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 4 of 4 reported patients
- Downturned corners of mouthHPOHP:0002714
- 4 of 4 reported patients
- Flexion contractureHPOHP:0001371
- 4 of 4 reported patients
- Full cheeksHPOHP:0000293
- 4 of 4 reported patients
- Generalized hypopigmentationHPOHP:0007513
- 4 of 4 reported patients · Congenital onset
- Genu valgumHPOHP:0002857
- 4 of 4 reported patients
- HydrocephalusHPOHP:0000238
- 3 of 3 reported patients
Show the remaining 20
- Hypoplasia of eyelidHPOHP:0430009
- 4 of 4 reported patients
- Increased total leukocyte countHPOHP:0001974
- 3 of 3 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 4 of 4 reported patients · Congenital onset
- MicrocephalyHPOHP:0000252
- 4 of 4 reported patients
- MicropenisHPOHP:0000054
- 1 of 1 reported patient
- Prominent foreheadHPOHP:0011220
- 4 of 4 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.
- ZPR1HGNC:13051
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of