RTSC3
MCID: RTS004
MIFTS: 17
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Ritscher-Schinzel Syndrome 3 (RTSC3)
Categories:
Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Ritscher-Schinzel Syndrome 3:
Name: Ritscher-Schinzel Syndrome 3
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6
Characteristics:HPO:31
ritscher-schinzel syndrome 3:
Onset and clinical course death in infancy congenital onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases |
OMIM® :
57
Ritscher-Schinzel syndrome-3 (RTSC3) is characterized by craniocerebellocardiac anomalies and severe postnatal growth restriction, as well as complicated skeletal malformations, including vertebral body hypoossification, sternal aplasia, and chondrodysplasia punctata. Other features include developmental delay, ocular anomalies, periventricular nodular heterotopia, and proteinuria (Kato et al., 2020).
For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210). (619135) (Updated 05-Mar-2021)
MalaCards based summary : Ritscher-Schinzel Syndrome 3, is also known as rtsc3. An important gene associated with Ritscher-Schinzel Syndrome 3 is VPS35L (VPS35 Endosomal Protein Sorting Factor Like). Related phenotypes are intellectual disability and hypertelorism |
Diseases in the Ritscher-Schinzel Syndrome family:
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Human phenotypes related to Ritscher-Schinzel Syndrome 3:31 (show all 28)
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Articles related to Ritscher-Schinzel Syndrome 3:
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ClinVar genetic disease variations for Ritscher-Schinzel Syndrome 3:6
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Search
GEO
for disease gene expression data for Ritscher-Schinzel Syndrome 3.
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