MCID: NRD060
MIFTS: 11

Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Impaired Intellectual...

MalaCards integrated aliases for Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia:

Name: Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 58 6
Neurodevelopmental Disorder, Impaired Intellectual Development, Hypotonia, and Ataxia 41
Nedidha 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
three patients from 2 unrelated families have been reported (last curated january 2019)


Classifications:



External Ids:

OMIM 58 618292

Summaries for Neurodevelopmental Disorder with Impaired Intellectual...

MalaCards based summary : Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia, is also known as neurodevelopmental disorder, impaired intellectual development, hypotonia, and ataxia. An important gene associated with Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia is DOCK3 (Dedicator Of Cytokinesis 3).

Description from OMIM: 618292

Related Diseases for Neurodevelopmental Disorder with Impaired Intellectual...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Impaired Intellectual...

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
global developmental delay
ataxic gait
delayed walking
poor or absent speech
impaired intellectual development

Head And Neck Face:
long face
pointed chin
prominent chin
prominent cheeks
dysmorphic facial features, mild, variable

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
high-arched palate

Skeletal Hands:
tapered fingers

Respiratory:
breath-holding spells (1 patient)

Head And Neck Nose:
anteverted nares
upturned nasal tip

Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds

Growth Height:
short stature, mild

Skeletal:
small joint laxity

Clinical features from OMIM:

618292

Drugs & Therapeutics for Neurodevelopmental Disorder with Impaired Intellectual...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia

Genetic Tests for Neurodevelopmental Disorder with Impaired Intellectual...

Anatomical Context for Neurodevelopmental Disorder with Impaired Intellectual...

Publications for Neurodevelopmental Disorder with Impaired Intellectual...

Variations for Neurodevelopmental Disorder with Impaired Intellectual...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DOCK3 NM_004947.5(DOCK3): c.382C> T (p.Gln128Ter) single nucleotide variant Likely pathogenic rs1553749681 GRCh37 Chromosome 3, 51101945: 51101945
2 DOCK3 NM_004947.5(DOCK3): c.382C> T (p.Gln128Ter) single nucleotide variant Likely pathogenic rs1553749681 GRCh38 Chromosome 3, 51064514: 51064514
3 DOCK3 NC_000003.11: g.51062402_51232768del deletion Pathogenic GRCh37 Chromosome 3, 51062402: 51232768

Expression for Neurodevelopmental Disorder with Impaired Intellectual...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia.

Pathways for Neurodevelopmental Disorder with Impaired Intellectual...

GO Terms for Neurodevelopmental Disorder with Impaired Intellectual...

Sources for Neurodevelopmental Disorder with Impaired Intellectual...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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