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Items: 3

1.

Ritscher-Schinzel syndrome 4

Ritscher-Schinzel syndrome-4 (RTSC4) is characterized by a constellation of congenital anomalies, including dysmorphic craniofacial features and structural brain anomalies, such as Dandy-Walker malformation (220200), hindbrain malformations, or agenesis of the corpus callosum, associated with global developmental delay and impaired intellectual development. Congenital cardiac defects have been reported in 1 family (summary by Ritscher et al., 1987 and Jeanne et al., 2021). For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210). [from OMIM]

MedGen UID:
1794149
Concept ID:
C5561939
Disease or Syndrome
2.

Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome

Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (OORS) is an autosomal recessive syndromic developmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, and hypoplastic terminal phalanges and nails. Patients have seizures or tonic posturing. The disorder is associated with a defect in GPI anchoring of membrane-bound proteins (summary by Salian et al., 2021). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). See also DOORS syndrome (220500), which shows some overlapping clinical features. [from OMIM]

MedGen UID:
1788511
Concept ID:
C5543496
Disease or Syndrome
3.

Impaired toileting ability

This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode. [from HPO]

MedGen UID:
1377201
Concept ID:
C4476941
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