deafness with labyrinthine aplasia, microtia, and microdontia
Findings
No curated finding names deafness with labyrinthine aplasia, microtia, and microdontia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.
Definition from the Mondo Disease Ontology (MONDO:0012541), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
29 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.
- Aplasia of the inner earHPOHP:0011372
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Delayed gross motor developmentHPOHP:0002194
- 9 of 9 reported patients
- MicrodontiaHPOHP:0000691
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Microtia, first degreeHPOHP:0011266
- 13 of 13 reported patients
- Profound sensorineural hearing impairmentHPOHP:0011476
- 9 of 9 reported patients · Congenital onset
- Widely spaced teethHPOHP:0000687
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Downslanted palpebral fissuresHPOHP:0000494
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- Jugular foramen stenosisHPOHP:6000376
- 3 of 4 reported patients
- Long faceHPOHP:0000276
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Pointed chinHPOHP:0000307
- Frequent (30% to 79% of cases)
- Underdeveloped nasal alaeHPOHP:0000430
- 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.
- FGF3HGNC:3681
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: deafness with labyrinthine aplasia, microtia, and microdontia
- Also called
- Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontiadeafness, congenital with inner ear agenesis, microtia, and microdontiaLAMM syndromemicrodontia-type I microtia-deafness syndrome