MCID: NRD023
MIFTS: 17

Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent...

MalaCards integrated aliases for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language:

Name: Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 57 75 6
Ndhsal 57 75
Neurodevelopmental Disorder with Hypotonia, Seizures, Absent Language 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
variable dysmorphic features


Classifications:



External Ids:

OMIM 57 617268
MeSH 44 D065886

Summaries for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent...

UniProtKB/Swiss-Prot : 75 Neurodevelopmental disorder with hypotonia, seizures, and absent language: A neurodevelopmental disorder characterized by severely delayed psychomotor development, absent speech, epilepsy, encephalopathy, hypotonia, dystonia/dyskinesia, and macrocephaly. Brain imaging show cerebral atrophy, enlarged ventricles, and white matter abnormalities.

MalaCards based summary : Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language, is also known as ndhsal. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language is HECW2 (HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase 2). Affiliated tissues include brain and eye.

Description from OMIM: 617268

Related Diseases for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus
telecanthus
epicanthal folds
thick eyebrows
more
Neurologic Central Nervous System:
intellectual disability
seizures
cerebral atrophy
enlarged ventricles
delayed walking
more
Head And Neck Nose:
depressed nasal bridge
flat nasal bridge
bulbous nasal tip
upturned nose

Head And Neck Mouth:
wide mouth
full lower lip

Head And Neck Ears:
large ears

Skeletal:
osteopenia

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
autistic features
hand flapping
rocking
self-stimulatory behavior

Head And Neck Face:
prominent forehead
midface retrusion
midface hypoplasia
dysmorphic facial features, variable

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding


Clinical features from OMIM:

617268

Drugs & Therapeutics for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language

Genetic Tests for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent...

Anatomical Context for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language:

41
Brain, Eye

Publications for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent...

Variations for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent...

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language:

75
# Symbol AA change Variation ID SNP ID
1 HECW2 p.Arg1191Gln VAR_077905 rs878854416
2 HECW2 p.Phe1193Val VAR_077906 rs878854422
3 HECW2 p.Arg1330Trp VAR_077907 rs878854417
4 HECW2 p.Glu1445Gly VAR_077908 rs878854424

ClinVar genetic disease variations for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HECW2 NM_020760.3(HECW2): c.4334A> G (p.Glu1445Gly) single nucleotide variant Uncertain significance rs878854424 GRCh38 Chromosome 2, 196220113: 196220113
2 HECW2 NM_020760.3(HECW2): c.4334A> G (p.Glu1445Gly) single nucleotide variant Uncertain significance rs878854424 GRCh37 Chromosome 2, 197084837: 197084837
3 HECW2 NM_020760.3(HECW2): c.3572G> A (p.Arg1191Gln) single nucleotide variant Pathogenic rs878854416 GRCh38 Chromosome 2, 196242162: 196242162
4 HECW2 NM_020760.3(HECW2): c.3572G> A (p.Arg1191Gln) single nucleotide variant Pathogenic rs878854416 GRCh37 Chromosome 2, 197106886: 197106886
5 HECW2 NM_020760.3(HECW2): c.3577T> G (p.Phe1193Val) single nucleotide variant Pathogenic rs878854422 GRCh38 Chromosome 2, 196242157: 196242157
6 HECW2 NM_020760.3(HECW2): c.3577T> G (p.Phe1193Val) single nucleotide variant Pathogenic rs878854422 GRCh37 Chromosome 2, 197106881: 197106881
7 HECW2 NM_020760.3(HECW2): c.3988C> T (p.Arg1330Trp) single nucleotide variant Pathogenic rs878854417 GRCh37 Chromosome 2, 197090524: 197090524
8 HECW2 NM_020760.3(HECW2): c.3988C> T (p.Arg1330Trp) single nucleotide variant Pathogenic rs878854417 GRCh38 Chromosome 2, 196225800: 196225800
9 HECW2 NM_020760.3(HECW2): c.2741C> T (p.Thr914Met) single nucleotide variant Uncertain significance rs375518920 GRCh37 Chromosome 2, 197171285: 197171285
10 HECW2 NM_020760.3(HECW2): c.2741C> T (p.Thr914Met) single nucleotide variant Uncertain significance rs375518920 GRCh38 Chromosome 2, 196306561: 196306561

Expression for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language.

Pathways for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent...

GO Terms for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent...

Sources for Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent...

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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