NEDCAFD
MCID: NRD119
MIFTS: 8

Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism (NEDCAFD)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Cerebral Atrophy and Variable...

MalaCards integrated aliases for Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism:

Name: Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism 57
Nedcafd 57

Classifications:



External Ids:

OMIM® 57 619244

Summaries for Neurodevelopmental Disorder with Cerebral Atrophy and Variable...

OMIM® : 57 Neurodevelopmental disorder with cerebral atrophy and facial dysmorphism (NEDCAFD) is an autosomal recessive disorder characterized by global developmental delay apparent from birth. Affected individuals have hypotonia with inability to walk and severely impaired intellectual development with absent language. Most patients have variable dysmorphic facial features including prominent eyes, protruding and low-set ears, and thin upper lip. Brain imaging shows cerebral atrophy, corpus callosum hypoplasia, and a simplified gyral pattern (summary by Rasheed et al., 2021). (619244) (Updated 05-Apr-2021)

MalaCards based summary : Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism, is also known as nedcafd. An important gene associated with Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism is TTC5 (Tetratricopeptide Repeat Domain 5).

Related Diseases for Neurodevelopmental Disorder with Cerebral Atrophy and Variable...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Cerebral Atrophy and Variable...

Clinical features from OMIM®:

619244 (Updated 05-Apr-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Cerebral Atrophy and Variable...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism

Genetic Tests for Neurodevelopmental Disorder with Cerebral Atrophy and Variable...

Anatomical Context for Neurodevelopmental Disorder with Cerebral Atrophy and Variable...

Publications for Neurodevelopmental Disorder with Cerebral Atrophy and Variable...

Articles related to Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism:

# Title Authors PMID Year
1
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. 57
32439809 2021
2
Genetics of intellectual disability in consanguineous families. 57
29302074 2019

Variations for Neurodevelopmental Disorder with Cerebral Atrophy and Variable...

Expression for Neurodevelopmental Disorder with Cerebral Atrophy and Variable...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism.

Pathways for Neurodevelopmental Disorder with Cerebral Atrophy and Variable...

GO Terms for Neurodevelopmental Disorder with Cerebral Atrophy and Variable...

Sources for Neurodevelopmental Disorder with Cerebral Atrophy and Variable...

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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