Disease #01923 (PTORCH1 (Ppseudo-TORCH syndrome 1), OMIM:251290)

Official abbreviation PTORCH1
Name Ppseudo-TORCH syndrome 1
OMIM ID 251290
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene OCLN
Associated tissues -
Disease features onset neonatal; microcephaly; rare cataracts; facial dysmorphisms (long philtrum, microretrognathia, low-set ears, anteverted nares, high arched palate); severe developmental delay; seizures; spasticity; hypotonia; intracranial calcifications; no intracranial hemorrhage; ventriculomegaly; corpus callosum anomalies; hepatomegaly; rare renal anomalies
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2023-03-31 19:41:06 +02:00 (CEST)


Individuals

1 entry on 1 page. Showing entry 1.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00080900 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - PTORCH1 Band-like calcification with simplified gyration and polymicrogyria (OMIM:251290) OCLN OCLN 1 1 Daniel Trujillano
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.