(Q55785037)

English

craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

human disease

Developmental delay-short stature-dysmorphic features-sparse hair syndrome
DEDSSH
Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

malformation syndrome with short stature

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic syndromic intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

dysostosis with predominant craniofacial involvement

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

UniProt protein ID

13 August 2019

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

http://www.orpha.net/ORDO/Orphanet_459061

0 references

Identifiers

0 references

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Sitelinks

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Wiktionary(0 entries)

Multilingual sites(0 entries)

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