midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
MONDO:0010516Mondo
Findings
No curated finding names midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
33 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
- Bifid uvulaHPOHP:0000193
- 2 of 2 reported patients
- Cleft hard palateHPOHP:0410005
- 1 of 1 reported patient
- Conductive hearing impairmentHPOHP:0000405
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 2 reported patients
- ElliptocytosisHPOHP:0004445
- 11 of 11 reported patients
- Flat faceHPOHP:0012368
- 3 of 3 reported patients
- MicrognathiaHPOHP:0000347
- 2 of 2 reported patients
- Narrow mouthHPOHP:0000160
- 1 of 1 reported patient
- NephrocalcinosisHPOHP:0000121
- 2 of 2 reported patients
Show the remaining 21
- Patent ductus arteriosusHPOHP:0001643
- 1 of 1 reported patient · Congenital onset
- Patent foramen ovaleHPOHP:0001655
- 1 of 1 reported patient · Congenital onset
- PolyhydramniosHPOHP:0001561
- 2 of 2 reported patients · Antenatal onset
- Short neckHPOHP:0000470
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Submucous cleft hard palateHPOHP:0000176
- 2 of 2 reported patients · Congenital onset
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.
- AMMECR1HGNC:467
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Illumina · X-linked · 2020
Where it sits
Other names
3 names
Resolves to: midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- Also called
- MFHIENmidface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, X-linked recessivemidface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN