NEDIDHA
MCID: NRD060
MIFTS: 17

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 56 73 6
Nedidha 56 73
Neurodevelopmental Disorder, Impaired Intellectual Development, Hypotonia, and Ataxia 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Impaired Intellectual...

UniProtKB/Swiss-Prot : 73 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 global developmental delay 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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 mandibular prognathia 31 HP:0000303
3 anteverted nares 31 HP:0000463
4 high palate 31 HP:0000218
5 epicanthus 31 HP:0000286
6 downslanted palpebral fissures 31 HP:0000494
7 long face 31 HP:0000276
8 pointed chin 31 HP:0000307
9 hyporeflexia 31 HP:0001265
10 tapered finger 31 HP:0001182
11 gait ataxia 31 HP:0002066
12 generalized hypotonia 31 HP:0001290
13 mild short stature 31 HP:0003502
14 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
ataxic gait
delayed walking
impaired intellectual development
poor or absent speech

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. 56 6
29130632 2018
2
Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. 6 56
28195318 2017
3
Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration. 56
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DOCK3 NC_000003.11:g.51062402_51232768deldeletion Pathogenic 617489 3:51062402-51232768
2 DOCK3 NM_004947.5(DOCK3):c.382C>T (p.Gln128Ter)SNV Likely pathogenic 520862 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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