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Items: 5

1.

Mental retardation non-syndromic

MedGen UID:
910252
Concept ID:
CN240380
Disease or Syndrome
2.

Syndromic intellectual disability, X-linked

MedGen UID:
831692
Concept ID:
CN227788
Finding
3.

Mental retardation, X-linked 18

Nonsyndromic mental retardation. [from MCA/MR]

MedGen UID:
807677
Concept ID:
C0796224
Disease or Syndrome
4.

Wieacker syndrome

Wieacker-Wolff syndrome is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder (summary by Hirata et al., 2013). [from OMIM]

MedGen UID:
163227
Concept ID:
C0796200
Disease or Syndrome
5.

Mental retardation, X-linked 50

MedGen UID:
376278
Concept ID:
C1848087
Disease or Syndrome
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