MCID: NRD039
MIFTS: 15

Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Severe Motor Impairment and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language:

Name: Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language 57 75 6
Nedmial 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
variable dysmorphic features
patients are severely impaired


Classifications:



External Ids:

OMIM 57 617804
MedGen 42 CN703736
MeSH 44 D065886

Summaries for Neurodevelopmental Disorder with Severe Motor Impairment and...

OMIM : 57 NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017). (617804)

MalaCards based summary : Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language, is also known as nedmial. An important gene associated with Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language is DHX30 (DExH-Box Helicase 30). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 75 Neurodevelopmental disorder with severe motor impairment and absent language: A neurodevelopmental disorder characterized by global developmental delay, intellectual disability, severe speech impairment and gait abnormalities.

Related Diseases for Neurodevelopmental Disorder with Severe Motor Impairment and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Severe Motor Impairment and...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Abdomen Gastrointestinal:
feeding difficulties

Skeletal:
joint hypermobility

Skeletal Feet:
flat feet

Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral abnormalities, variable

Head And Neck Face:
orofacial hypotonia
dysmorphic facial features, variable

Neurologic Central Nervous System:
intellectual disability
ataxia
chorea
global developmental delay
absent speech
more
Head And Neck Eyes:
strabismus
synophrys
epicanthal folds
full eyelids

Head And Neck Mouth:
bruxism
high-arched palate
everted lower lip

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
small head circumference

Skeletal Hands:
tapering fingers persistent fetal fingerpads


Clinical features from OMIM:

617804

Drugs & Therapeutics for Neurodevelopmental Disorder with Severe Motor Impairment and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language

Genetic Tests for Neurodevelopmental Disorder with Severe Motor Impairment and...

Anatomical Context for Neurodevelopmental Disorder with Severe Motor Impairment and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language:

41
Brain

Publications for Neurodevelopmental Disorder with Severe Motor Impairment and...

Variations for Neurodevelopmental Disorder with Severe Motor Impairment and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 DHX30 NM_138615.2(DHX30): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs1057519436 GRCh37 Chromosome 3, 47888040: 47888040
2 DHX30 NM_138615.2(DHX30): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs1057519436 GRCh38 Chromosome 3, 47846550: 47846550
3 DHX30 NM_138615.2(DHX30): c.2344C> T (p.Arg782Trp) single nucleotide variant Pathogenic rs753242774 GRCh37 Chromosome 3, 47889727: 47889727
4 DHX30 NM_138615.2(DHX30): c.2344C> T (p.Arg782Trp) single nucleotide variant Pathogenic rs753242774 GRCh38 Chromosome 3, 47848237: 47848237
5 DHX30 NM_138615.2(DHX30): c.1685A> G (p.His562Arg) single nucleotide variant Pathogenic rs1060499733 GRCh37 Chromosome 3, 47888247: 47888247
6 DHX30 NM_138615.2(DHX30): c.1685A> G (p.His562Arg) single nucleotide variant Pathogenic rs1060499733 GRCh38 Chromosome 3, 47846757: 47846757
7 DHX30 NM_138615.2(DHX30): c.2353C> T (p.Arg785Cys) single nucleotide variant Pathogenic rs1085307451 GRCh37 Chromosome 3, 47889736: 47889736
8 DHX30 NM_138615.2(DHX30): c.2353C> T (p.Arg785Cys) single nucleotide variant Pathogenic rs1085307451 GRCh38 Chromosome 3, 47848246: 47848246
9 DHX30 NM_138615.2(DHX30): c.2342G> A (p.Gly781Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 47889725: 47889725
10 DHX30 NM_138615.2(DHX30): c.2342G> A (p.Gly781Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 47848235: 47848235
11 DHX30 NM_138615.2(DHX30): c.2354G> A (p.Arg785His) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 47889737: 47889737
12 DHX30 NM_138615.2(DHX30): c.2354G> A (p.Arg785His) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 47848247: 47848247
13 DHX30 NM_014966.3(DHX30): c.2606G> A (p.Arg869Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 47848771: 47848771
14 DHX30 NM_014966.3(DHX30): c.2606G> A (p.Arg869Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 47890261: 47890261

Expression for Neurodevelopmental Disorder with Severe Motor Impairment and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language.

Pathways for Neurodevelopmental Disorder with Severe Motor Impairment and...

GO Terms for Neurodevelopmental Disorder with Severe Motor Impairment and...

Sources for Neurodevelopmental Disorder with Severe Motor Impairment and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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