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 57 74 6
Nedidha 57 74
Neurodevelopmental Disorder, Impaired Intellectual Development, Hypotonia, and Ataxia 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 618292
MeSH 44 D065886

Summaries for Neurodevelopmental Disorder with Impaired Intellectual...

UniProtKB/Swiss-Prot : 74 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 high palate and mandibular prognathia

More information 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:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 mandibular prognathia 32 HP:0000303
3 global developmental delay 32 HP:0001263
4 anteverted nares 32 HP:0000463
5 generalized hypotonia 32 HP:0001290
6 epicanthus 32 HP:0000286
7 gait ataxia 32 HP:0002066
8 downslanted palpebral fissures 32 HP:0000494
9 long face 32 HP:0000276
10 pointed chin 32 HP:0000307
11 hyporeflexia 32 HP:0001265
12 tapered finger 32 HP:0001182
13 mild short stature 32 HP:0003502
14 delayed ability to walk 32 HP:0031936

Symptoms via clinical synopsis from OMIM:

57
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 PMID Year
1
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. 8 71
29130632 2018
2
Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. 8 71
28195318 2017
3
Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration. 8
19129390 2009

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 GRCh37 Pos GRCh38 Pos
1 DOCK3 NC_000003.11: g.51062402_51232768del deletion Pathogenic 3:51062402-51232768 :0-0
2 DOCK3 NM_004947.5(DOCK3): c.382C> T (p.Gln128Ter) single nucleotide variant Likely pathogenic rs1553749681 3:51101945-51101945 3:51064514-51064514

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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