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Items: 3

1.

Alopecia-intellectual disability syndrome 4

Alopecia-intellectual disability syndrome-4 (APMR4) is characterized by alopecia universalis, scaly skin, and psychomotor retardation of varying degrees (Besnard et al., 2019). For a discussion of genetic heterogeneity of alopecia-intellectual disability syndrome, see APMR1 (203650). [from OMIM]

MedGen UID:
1713432
Concept ID:
C5394241
Disease or Syndrome
2.

Hypotrichosis 14

Hypotrichosis-14 (HYPT14) is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair (Romano et al., 2018). For a discussion of genetic heterogeneity of hypotrichosis, see HYPT1 (605389). [from OMIM]

MedGen UID:
1648477
Concept ID:
C4748930
Disease or Syndrome
3.

Cataract 44

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene. [from MONDO]

MedGen UID:
907487
Concept ID:
C4225300
Disease or Syndrome
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