tetraamelia syndrome 2
MONDO:0060732Mondo
Findings
No curated finding names tetraamelia syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
12 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.
- AmeliaHPOHP:0009827
- 7 of 7 reported patients
- Cleft palateHPOHP:0000175
- 6 of 7 reported patients
- Bilateral lung agenesisHPOHP:0005944
- 5 of 7 reported patients
- MicrognathiaHPOHP:0000347
- 11 of 17 reported patients
- Bilateral cleft lipHPOHP:0100336
- 4 of 7 reported patients
- MicropenisHPOHP:0000054
- 1 of 3 reported patients
- AnkyloglossiaHPOHP:0010296
- 2 of 7 reported patients
- Hypoplastic pulmonary veinsHPOHP:0005304
- 2 of 7 reported patients
- MicroretrognathiaHPOHP:0000308
- 2 of 7 reported patients
- Absent nippleHPOHP:0002561
- 1 of 7 reported patients
- GlossoptosisHPOHP:0000162
- 1 of 7 reported patients
- HypertelorismHPOHP:0000316
- 1 of 7 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.
- RSPO2HGNC:28583
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2018