NEDMIAL
MCID: NRD039
MIFTS: 24

Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language (NEDMIAL)

Categories: Genetic diseases, Neuronal diseases, Rare 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 20 72 6
Nedmial 57 20 72
Dhx30-Related Neurodevelopmental Disorder 20
Dhx30-Related Disorder 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
neurodevelopmental disorder with severe motor impairment and absent language:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



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

GARD : 20 Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) is a rare condition caused by a change in the DexH-box helicase 30 (DHX30) gene. The most common signs and symptoms are severe intellectual, speech and walking impairment. Infants with the disorder have low muscle tone, delayed mental and motor skills, and problems feeding. Many children with the disorder are non-verbal, although some use a few words. Walking is difficult for children with this rare disorder. Children who walk independently have an unsteady gait. Additional symptoms vary, but may include autistic features, behavior challenges, sleep disorder, seizures, hyper-flexible joints, involuntary movements, distinctive facial features, and strabismus.

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, and related phenotypes are seizure and intellectual disability

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Neurodevelopmental disorder with severe motor impairment and absent language: An autosomal dominant 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...

Human phenotypes related to Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 seizure 31 very rare (1%) HP:0001250
2 intellectual disability 31 HP:0001249
3 ataxia 31 HP:0001251
4 high palate 31 HP:0000218
5 chorea 31 HP:0002072
6 global developmental delay 31 HP:0001263
7 pes planus 31 HP:0001763
8 abnormal facial shape 31 HP:0001999
9 microcephaly 31 HP:0000252
10 everted lower lip vermilion 31 HP:0000232
11 strabismus 31 HP:0000486
12 absent speech 31 HP:0001344
13 low-set ears 31 HP:0000369
14 epicanthus 31 HP:0000286
15 joint hypermobility 31 HP:0001382
16 ventriculomegaly 31 HP:0002119
17 dystonia 31 HP:0001332
18 synophrys 31 HP:0000664
19 feeding difficulties 31 HP:0011968
20 cerebellar atrophy 31 HP:0001272
21 cerebral atrophy 31 HP:0002059
22 generalized hypotonia 31 HP:0001290
23 inability to walk 31 HP:0002540
24 bruxism 31 HP:0003763
25 delayed myelination 31 HP:0012448
26 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
ataxia
chorea
global developmental delay
absent speech
more
Head And Neck Ears:
low-set ears

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral abnormalities, variable

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

Head And Neck Eyes:
strabismus
synophrys
epicanthal folds
full eyelids

Skeletal:
joint hypermobility

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

Skeletal Feet:
flat feet

Head And Neck Head:
small head circumference

Skeletal Hands:
tapering fingers persistent fetal fingerpads

Clinical features from OMIM®:

617804 (Updated 20-May-2021)

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:

40
Brain

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

Articles related to Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language:

# Title Authors PMID Year
1
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. 6 57
29100085 2017
2
Lessons learned from additional research analyses of unsolved clinical exome cases. 57 6
28327206 2017
3
A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder. 61
31929335 2020

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 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DHX30 NM_138615.3(DHX30):c.1478G>A (p.Arg493His) SNV Pathogenic 375374 rs1057519436 GRCh37: 3:47888040-47888040
GRCh38: 3:47846550-47846550
2 DHX30 NM_138615.3(DHX30):c.1685A>G (p.His562Arg) SNV Pathogenic 402130 rs1060499733 GRCh37: 3:47888247-47888247
GRCh38: 3:47846757-47846757
3 DHX30 NM_138615.3(DHX30):c.2342G>A (p.Gly781Asp) SNV Pathogenic 453269 rs1553706775 GRCh37: 3:47889725-47889725
GRCh38: 3:47848235-47848235
4 DHX30 NM_138615.3(DHX30):c.2354G>A (p.Arg785His) SNV Pathogenic 453272 rs1553706799 GRCh37: 3:47889737-47889737
GRCh38: 3:47848247-47848247
5 DHX30 NM_138615.3(DHX30):c.1390A>G (p.Thr464Ala) SNV Pathogenic 801964 rs1576517675 GRCh37: 3:47887952-47887952
GRCh38: 3:47846462-47846462
6 DHX30 NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp) SNV Pathogenic 375373 rs753242774 GRCh37: 3:47889727-47889727
GRCh38: 3:47848237-47848237
7 DHX30 NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys) SNV Pathogenic 426111 rs1085307451 GRCh37: 3:47889736-47889736
GRCh38: 3:47848246-47848246
8 DHX30 NM_138615.3(DHX30):c.2723G>A (p.Arg908Gln) SNV Likely pathogenic 523233 rs1553707019 GRCh37: 3:47890261-47890261
GRCh38: 3:47848771-47848771
9 DHX30 NM_138615.3(DHX30):c.1867C>A (p.Leu623Ile) SNV Uncertain significance 638528 rs1576518614 GRCh37: 3:47888429-47888429
GRCh38: 3:47846939-47846939
10 DHX30 NM_138615.3(DHX30):c.1352C>T (p.Pro451Leu) SNV Uncertain significance 915350 GRCh37: 3:47887914-47887914
GRCh38: 3:47846424-47846424
11 DHX30 NM_138615.3(DHX30):c.1384G>A (p.Gly462Arg) SNV Uncertain significance 931675 GRCh37: 3:47887946-47887946
GRCh38: 3:47846456-47846456
12 DHX30 NM_138615.3(DHX30):c.2006-6T>C SNV Uncertain significance 1029135 GRCh37: 3:47888916-47888916
GRCh38: 3:47847426-47847426

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language:

72
# Symbol AA change Variation ID SNP ID
1 DHX30 p.Arg493His VAR_080611 rs105751943
2 DHX30 p.His562Arg VAR_080612 rs106049973
3 DHX30 p.Gly781Asp VAR_080613 rs155370677
4 DHX30 p.Arg782Trp VAR_080614 rs753242774
5 DHX30 p.Arg785Cys VAR_080615 rs108530745
6 DHX30 p.Arg785His VAR_080616 rs155370679

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 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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