(Q55345893)

English

postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome

human disease

MRT49
Mental Retardation, Autosomal Recessive type 49
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49

In more languages

Statements

0 references

class of disease

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autosomal recessive complex spastic paraplegia

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

genetic syndromic intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy

11 April 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42a70a83-40da-4acc-b6a3-9ef3942abd14-2021-10-05T115427.845Z

http://www.orpha.net/ORDO/Orphanet_477673

0 references

Identifiers

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mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

UniProt disease ID

0 references

Sitelinks

Wikipedia(0 entries)

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Wikinews(0 entries)

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Wikisource(0 entries)

Wikiversity(0 entries)

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Wiktionary(0 entries)

Multilingual sites(0 entries)

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