NEDIDHA
MCID: NRD060
MIFTS: 19

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 73 6
Nedidha 57 73
Neurodevelopmental Disorder, Impaired Intellectual Development, Hypotonia, and Ataxia 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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 high palate and global developmental delay

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 high palate 31 HP:0000218
2 global developmental delay 31 HP:0001263
3 mandibular prognathia 31 HP:0000303
4 anteverted nares 31 HP:0000463
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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
Variants in DOCK3 cause developmental delay and hypotonia. 6 57
30976111 2019
2
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. 6 57
29130632 2018
3
Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. 6 57
28195318 2017
4
Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration. 57
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 NM_004947.5(DOCK3):c.1038-2A>G SNV Pathogenic 599269 rs1560212751 3:51246203-51246203 3:51208772-51208772
2 DOCK3 NM_004947.5(DOCK3):c.3107_3110del (p.Tyr1036fs) Deletion Pathogenic 599268 rs1560414254 3:51349917-51349920 3:51312486-51312489
3 DOCK3 NM_004947.5(DOCK3):c.3887A>G (p.Lys1296Arg) SNV Pathogenic 976456 3:51378788-51378788 3:51341357-51341357
4 DOCK3 NM_004947.5(DOCK3):c.1175G>A (p.Arg392Gln) SNV Pathogenic 976457 3:51251601-51251601 3:51214170-51214170
5 DOCK3 NM_004947.5(DOCK3):c.5020A>T (p.Met1674Leu) SNV Pathogenic 547977 rs142515812 3:51399303-51399303 3:51361872-51361872
6 DOCK3 NM_004947.5(DOCK3):c.382C>T (p.Gln128Ter) SNV Pathogenic 520862 rs1553749681 3:51101945-51101945 3:51064514-51064514
7 DOCK3 NC_000003.11:g.51062402_51232768del Deletion Pathogenic 617489 3:51062402-51232768
8 DOCK3 NM_004947.5(DOCK3):c.3740T>C (p.Met1247Thr) SNV Uncertain significance 983119 3:51376433-51376433 3:51339002-51339002
9 DOCK3 GRCh37/hg19 3p21.2(chr3:51112757-51113090)x0 copy number loss not provided 973086 3:51112757-51113090

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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