Tooth agenesis, selective, 4- MedGen UID:
- 372057
- •Concept ID:
- C1835492
- •
- Disease or Syndrome
Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene.
Deafness with labyrinthine aplasia, microtia, and microdontia- MedGen UID:
- 342803
- •Concept ID:
- C1853144
- •
- Disease or Syndrome
Congenital deafness with labyrinthine aplasia, microtia, and microdontia (LAMM syndrome) is characterized by: profound bilateral congenital sensorineural deafness associated with inner ear anomalies (most often bilateral complete labyrinthine aplasia); microtia (type I) that is typically bilateral (although unilateral microtia and normal external ears are observed on occasion); and microdontia (small teeth). Individuals with LAMM syndrome commonly have motor delays during infancy presumably due to impaired balance from inner ear (vestibular) abnormalities. Growth, physical development, and cognition are normal.
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome- MedGen UID:
- 903767
- •Concept ID:
- C4225396
- •
- Disease or Syndrome
Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).