NDHSAL
MCID: NRD023
MIFTS: 21

Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language (NDHSAL)

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 58 76 30 6
Ndhsal 58 76
Neurodevelopmental Disorder with Hypotonia, Seizures, Absent Language 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
variable dysmorphic features


HPO:

33
neurodevelopmental disorder with hypotonia, seizures, and absent language:
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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, and related phenotypes are ptosis and osteopenia

Description from OMIM: 617268

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

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

Human phenotypes related to Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language:

33 (show all 32)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 very rare (1%) HP:0000508
2 osteopenia 33 very rare (1%) HP:0000938
3 intellectual disability 33 very rare (1%) HP:0001249
4 seizures 33 very rare (1%) HP:0001250
5 self-injurious behavior 33 very rare (1%) HP:0100716
6 global developmental delay 33 very rare (1%) HP:0001263
7 strabismus 33 very rare (1%) HP:0000486
8 deeply set eye 33 very rare (1%) HP:0000490
9 generalized hypotonia 33 very rare (1%) HP:0001290
10 autistic behavior 33 very rare (1%) HP:0000729
11 nasogastric tube feeding 33 very rare (1%) HP:0040288
12 cerebral visual impairment 33 very rare (1%) HP:0100704
13 recurrent hand flapping 33 very rare (1%) HP:0100023
14 nystagmus 33 HP:0000639
15 eeg abnormality 33 HP:0002353
16 macrotia 33 HP:0000400
17 depressed nasal bridge 33 HP:0005280
18 abnormal facial shape 33 HP:0001999
19 anteverted nares 33 HP:0000463
20 thick eyebrow 33 HP:0000574
21 prominent forehead 33 HP:0011220
22 thick lower lip vermilion 33 HP:0000179
23 epicanthus 33 HP:0000286
24 high, narrow palate 33 HP:0002705
25 ventriculomegaly 33 HP:0002119
26 telecanthus 33 HP:0000506
27 wide mouth 33 HP:0000154
28 bulbous nose 33 HP:0000414
29 midface retrusion 33 HP:0011800
30 cerebral atrophy 33 HP:0002059
31 sparse eyebrow 33 HP:0045075
32 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
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...

Genetic tests related to Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 30 HECW2

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

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

42
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:

76
# 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 (show all 14)
# 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_001348768.1(HECW2): c.3577T> G (p.Phe1193Val) single nucleotide variant Pathogenic rs878854422 GRCh38 Chromosome 2, 196242157: 196242157
6 HECW2 NM_001348768.1(HECW2): c.3577T> G (p.Phe1193Val) single nucleotide variant Pathogenic rs878854422 GRCh37 Chromosome 2, 197106881: 197106881
7 HECW2 NM_001348768.1(HECW2): c.3988C> T (p.Arg1330Trp) single nucleotide variant Pathogenic rs878854417 GRCh37 Chromosome 2, 197090524: 197090524
8 HECW2 NM_001348768.1(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
11 HECW2 NM_020760.3(HECW2): c.2167G> C (p.Glu723Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 196318723: 196318723
12 HECW2 NM_020760.3(HECW2): c.2167G> C (p.Glu723Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 197183447: 197183447
13 HECW2 NM_020760.3(HECW2): c.-35-1G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 196433459: 196433459
14 HECW2 NM_020760.3(HECW2): c.-35-1G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 197298183: 197298183

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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