NEDIDHA
MCID: NRD060
MIFTS: 16

Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia (NEDIDHA)

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 76 6
Nedidha 58 76
Neurodevelopmental Disorder, Impaired Intellectual Development, Hypotonia, and Ataxia 41

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
MeSH 45 D065886
MedGen 43 CN258148

Summaries for Neurodevelopmental Disorder with Impaired Intellectual...

UniProtKB/Swiss-Prot : 76 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia: An autosomal recessive disease characterized by global developmental delay, hypotonia, ataxic gait, hyporeflexia, poor or absent speech, and variable and mild dysmorphic features.

MalaCards based summary : Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia, is also known as nedidha. An important gene associated with Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia is DOCK3 (Dedicator Of Cytokinesis 3). Related phenotypes are mandibular prognathia and global developmental delay

Description from OMIM: 618292

Related Diseases for Neurodevelopmental Disorder with Impaired Intellectual...

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

Human phenotypes related to Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 33 HP:0000303
2 global developmental delay 33 HP:0001263
3 anteverted nares 33 HP:0000463
4 epicanthus 33 HP:0000286
5 gait ataxia 33 HP:0002066
6 downslanted palpebral fissures 33 HP:0000494
7 long face 33 HP:0000276
8 pointed chin 33 HP:0000307
9 delayed ability to walk 33 HP:0031936

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

Growth Height:
short stature, mild

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

Skeletal Hands:
tapered fingers

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...

Articles related to Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia:

# Title Authors Year
1
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. ( 29130632 )
2018
2
Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. ( 28195318 )
2017

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...

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7 CNVD
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10 dbSNP
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18 ExPASy
20 FMA
29 GO
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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