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Items: 4

1.

Tooth agenesis, selective, 4

Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene. [from MONDO]

MedGen UID:
372057
Concept ID:
C1835492
Disease or Syndrome
2.

Deafness with labyrinthine aplasia, microtia, and microdontia

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. [from GeneReviews]

MedGen UID:
342803
Concept ID:
C1853144
Disease or Syndrome
3.

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects 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). [from OMIM]

MedGen UID:
903767
Concept ID:
C4225396
Disease or Syndrome
4.

Peg-shaped maxillary lateral incisors

A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter [from HPO]

MedGen UID:
870609
Concept ID:
C4025060
Finding

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