NEDMIAL
MCID: NRD039
MIFTS: 22

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 53 75 6
Nedmial 57 53 75
Dhx30-Related Neurodevelopmental Disorder 53
Dhx30-Related Disorder 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
neurodevelopmental disorder with severe motor impairment and absent language:
Onset and clinical course infantile onset


Classifications:



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

NIH Rare Diseases : 53 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 high palate 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)

UniProtKB/Swiss-Prot : 75 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...

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

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

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 intellectual disability 32 HP:0001249
3 seizures 32 very rare (1%) HP:0001250
4 ataxia 32 HP:0001251
5 chorea 32 HP:0002072
6 global developmental delay 32 HP:0001263
7 abnormal facial shape 32 HP:0001999
8 strabismus 32 HP:0000486
9 epicanthus 32 HP:0000286
10 everted lower lip vermilion 32 HP:0000232
11 absent speech 32 HP:0001344
12 dystonia 32 HP:0001332
13 inability to walk 32 HP:0002540
14 ventriculomegaly 32 HP:0002119
15 synophrys 32 HP:0000664
16 cerebellar atrophy 32 HP:0001272
17 cerebral atrophy 32 HP:0002059
18 bruxism 32 HP:0003763
19 delayed myelination 32 HP:0012448
20 delayed ability to walk 32 HP:0031936

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...

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

75
# Symbol AA change Variation ID SNP ID
1 DHX30 p.Arg493His VAR_080611
2 DHX30 p.His562Arg VAR_080612
3 DHX30 p.Gly781Asp VAR_080613
4 DHX30 p.Arg782Trp VAR_080614
5 DHX30 p.Arg785Cys VAR_080615
6 DHX30 p.Arg785His VAR_080616

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...

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