Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
MONDO:0010263Mondo
Findings
No curated finding names Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance · Contiguous gene syndrome
- Onset and course
- Adult onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
40 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.
- HematuriaHPOHP:0000790
- 4 of 4 reported patients
- Abnormal hair morphologyHPOHP:0001595
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- 2 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- GlomerulopathyHPOHP:0100820
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- Microscopic hematuriaHPOHP:0002907
- Very frequent (80% to 99% of cases)
- ProteinuriaHPOHP:0000093
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- ElliptocytosisHPOHP:0004445
- 2 of 4 reported patients
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
Show the remaining 28
- HypotoniaHPOHP:0001252
- 1 of 4 reported patients
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
- Tapered fingerHPOHP:0001182
- Frequent (30% to 79% of cases)
- Thick vermilion borderHPOHP:0012471
- Frequent (30% to 79% of cases)
- Thin vermilion borderHPOHP:0000233
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 2 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.
- AMMECR1HGNC:467
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- Also called
- AMME complexAMME syndromeATS-MR