arhinia, choanal atresia, and microphthalmia
MONDO:0011323Mondo
Findings
No curated finding names arhinia, choanal atresia, and microphthalmia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
47 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.
- Abnormal midface morphologyHPOHP:0000309
- Very frequent (80% to 99% of cases)
- Absent naresHPOHP:0100596
- Very frequent (80% to 99% of cases)
- AnosmiaHPOHP:0000458
- Very frequent (80% to 99% of cases)
- Aplasia of the noseHPOHP:0009927
- Congenital onset
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- 9 of 40 reported patients
- Very frequent (80% to 99% of cases)
- External genital hypoplasiaHPOHP:0003241
- Very frequent (80% to 99% of cases)
- Failure of eruption of permanent teethHPOHP:0006352
- Very frequent (80% to 99% of cases)
- HypogonadismHPOHP:0000135
- Very frequent (80% to 99% of cases)
- Hypoplasia of penisHPOHP:0008736
- Very frequent (80% to 99% of cases)
- Hypoplasia of the olfactory bulbHPOHP:0040326
- Very frequent (80% to 99% of cases)
- HyposmiaHPOHP:0004409
- Very frequent (80% to 99% of cases)
- Inguinal herniaHPOHP:0000023
- Very frequent (80% to 99% of cases)
Show the remaining 35
- Single narisHPOHP:0009932
- Very frequent (80% to 99% of cases)
- Tooth malpositionHPOHP:0000692
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- 27 of 40 reported patients
- Abdominal wall muscle weaknessHPOHP:0009023
- Frequent (30% to 79% of cases)
- AmblyopiaHPOHP:0000646
- Frequent (30% to 79% of cases)
- AnophthalmiaHPOHP:0000528
- Frequent (30% to 79% of cases)
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.
- SMCHD1HGNC:29090
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
13 names
Resolves to: arhinia, choanal atresia, and microphthalmia
- Also called
- arhinia choanal atresia microphthalmiaarhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadismarrhinia-choanal atresia-microphthalmia syndromeBAM syndromeBAMSBosma Arhinia Microphthalmia SyndromeBosma arhinia-microphthalmia syndromeBosma Henkin Christiansen syndromeBosma syndromeBosma-Henkin-Christiansen syndromeGifford-Bosma syndromehyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeRuprecht Majewski syndrome