NDHSAL
MCID: NRD023
MIFTS: 26

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 57 72 29 6
Ndhsal 57 72
Neurodevelopmental Disorder with Hypotonia, Seizures, Absent Language 39

Characteristics:

OMIM®:

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

Miscellaneous:
de novo mutation
variable dysmorphic features


HPO:

31
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 : 72 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, also known as ndhsal, is related to hypotonia and schizophrenia. 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 eye, and related phenotypes are intellectual disability and ptosis

More information from OMIM: 617268

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

Diseases related to Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypotonia 9.6 NTNG2 HECW2
2 schizophrenia 9.5 NTNG2 HECW2

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

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

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
seizures
cerebral atrophy
enlarged ventricles
delayed walking
more
Skeletal:
osteopenia

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

Head And Neck Eyes:
nystagmus
strabismus
telecanthus
epicanthal folds
thick eyebrows
more
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 (Updated 20-May-2021)

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 29 HECW2

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

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

40
Eye

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

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

# Title Authors PMID Year
1
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 6 57
27389779 2017
2
Mutations in HECW2 are associated with intellectual disability and epilepsy. 57
27334371 2016
3
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015

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

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

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HECW2 NM_001348768.2(HECW2):c.3577T>G (p.Phe1193Val) SNV Pathogenic 242324 rs878854422 GRCh37: 2:197106881-197106881
GRCh38: 2:196242157-196242157
2 HECW2 NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp) SNV Pathogenic 242318 rs878854417 GRCh37: 2:197090524-197090524
GRCh38: 2:196225800-196225800
3 HECW2 NM_001348768.2(HECW2):c.3587A>G (p.Lys1196Arg) SNV Pathogenic 984978 GRCh37: 2:197106871-197106871
GRCh38: 2:196242147-196242147
4 HECW2 NM_001348768.2(HECW2):c.4333G>C (p.Glu1445Gln) SNV Pathogenic 1027614 GRCh37: 2:197084838-197084838
GRCh38: 2:196220114-196220114
5 HECW2 NM_001348768.2(HECW2):c.4355G>T (p.Gly1452Val) SNV Likely pathogenic 1027615 GRCh37: 2:197084816-197084816
GRCh38: 2:196220092-196220092
6 HECW2 NM_001348768.2(HECW2):c.4507A>G (p.Thr1503Ala) SNV Likely pathogenic 1027616 GRCh37: 2:197080689-197080689
GRCh38: 2:196215965-196215965
7 HECW2 NM_001348768.2(HECW2):c.4511C>A (p.Ser1504Tyr) SNV Likely pathogenic 848063 GRCh37: 2:197080685-197080685
GRCh38: 2:196215961-196215961
8 HECW2 NM_001348768.2(HECW2):c.4331G>C (p.Arg1444Thr) SNV Likely pathogenic 1012237 GRCh37: 2:197084840-197084840
GRCh38: 2:196220116-196220116
9 HECW2 NM_001348768.2(HECW2):c.412A>G (p.Ile138Val) SNV Likely pathogenic 1027607 GRCh37: 2:197199231-197199231
GRCh38: 2:196334507-196334507
10 HECW2 NM_001348768.2(HECW2):c.2587T>C (p.Tyr863His) SNV Likely pathogenic 1027609 GRCh37: 2:197171956-197171956
GRCh38: 2:196307232-196307232
11 HECW2 NM_001348768.2(HECW2):c.3597C>A (p.Asn1199Lys) SNV Likely pathogenic 1027612 GRCh37: 2:197106861-197106861
GRCh38: 2:196242137-196242137
12 HECW2 NM_001348768.2(HECW2):c.4323T>G (p.Phe1441Leu) SNV Likely pathogenic 1027613 GRCh37: 2:197084848-197084848
GRCh38: 2:196220124-196220124
13 HECW2 NM_001348768.2(HECW2):c.4471G>C (p.Glu1491Gln) SNV Likely pathogenic 666587 rs1575235801 GRCh37: 2:197081755-197081755
GRCh38: 2:196217031-196217031
14 HECW2 NM_001348768.2(HECW2):c.4343T>G (p.Leu1448Trp) SNV Likely pathogenic 801845 rs1575240464 GRCh37: 2:197084828-197084828
GRCh38: 2:196220104-196220104
15 HECW2 NM_001348768.2(HECW2):c.4321T>C (p.Phe1441Leu) SNV Likely pathogenic 807428 rs1575240506 GRCh37: 2:197084850-197084850
GRCh38: 2:196220126-196220126
16 HECW2 NM_001348768.2(HECW2):c.3829T>C (p.Tyr1277His) SNV Likely pathogenic 807429 rs1575255333 GRCh37: 2:197092914-197092914
GRCh38: 2:196228190-196228190
17 HECW2 NM_001348768.2(HECW2):c.3980T>C (p.Phe1327Ser) SNV Likely pathogenic 975711 GRCh37: 2:197090532-197090532
GRCh38: 2:196225808-196225808
18 HECW2 NM_001348768.2(HECW2):c.3542C>G (p.Ala1181Gly) SNV Likely pathogenic 984977 GRCh37: 2:197106916-197106916
GRCh38: 2:196242192-196242192
19 HECW2 NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln) SNV Conflicting interpretations of pathogenicity 242317 rs878854416 GRCh37: 2:197106886-197106886
GRCh38: 2:196242162-196242162
20 HECW2 NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly) SNV Uncertain significance 242326 rs878854424 GRCh37: 2:197084837-197084837
GRCh38: 2:196220113-196220113
21 HECW2 NM_001348768.2(HECW2):c.2741C>T (p.Thr914Met) SNV Uncertain significance 523073 rs375518920 GRCh37: 2:197171285-197171285
GRCh38: 2:196306561-196306561
22 HECW2 NM_001348768.2(HECW2):c.2167G>C (p.Glu723Gln) SNV Uncertain significance 560287 rs1559036568 GRCh37: 2:197183447-197183447
GRCh38: 2:196318723-196318723
23 HECW2 NM_001348768.2(HECW2):c.-35-1G>A SNV Uncertain significance 587613 rs755596278 GRCh37: 2:197298183-197298183
GRCh38: 2:196433459-196433459
24 HECW2 NM_001348768.2(HECW2):c.2230G>A (p.Glu744Lys) SNV Uncertain significance 635456 rs772889074 GRCh37: 2:197183384-197183384
GRCh38: 2:196318660-196318660
25 NTNG2 NM_032536.4(NTNG2):c.446T>C (p.Met149Thr) SNV Uncertain significance 691560 rs1589441679 GRCh37: 9:135073585-135073585
GRCh38: 9:132198198-132198198
26 NTNG2 NM_032536.4(NTNG2):c.1076C>G (p.Ser359Cys) SNV Uncertain significance 691557 rs1589568530 GRCh37: 9:135114512-135114512
GRCh38: 9:132239125-132239125
27 HECW2 NM_001348768.2(HECW2):c.3235G>A (p.Val1079Met) SNV Uncertain significance 982572 GRCh37: 2:197138748-197138748
GRCh38: 2:196274024-196274024
28 HECW2 NM_001348768.2(HECW2):c.4550G>A (p.Ser1517Asn) SNV Uncertain significance 828143 rs1353654549 GRCh37: 2:197080646-197080646
GRCh38: 2:196215922-196215922
29 HECW2 NM_001348768.2(HECW2):c.1072C>T (p.Pro358Ser) SNV Uncertain significance 870406 GRCh37: 2:197184542-197184542
GRCh38: 2:196319818-196319818
30 HECW2 NM_001348768.2(HECW2):c.2818G>A (p.Ala940Thr) SNV Uncertain significance 1027610 GRCh37: 2:197157471-197157471
GRCh38: 2:196292747-196292747
31 HECW2 NM_001348768.2(HECW2):c.3175C>T (p.Pro1059Ser) SNV Uncertain significance 1027611 GRCh37: 2:197138808-197138808
GRCh38: 2:196274084-196274084
32 HECW2 NM_001348768.2(HECW2):c.951G>T (p.Gln317His) SNV Uncertain significance 1027608 GRCh37: 2:197185097-197185097
GRCh38: 2:196320373-196320373
33 HECW2 NM_001348768.2(HECW2):c.1166G>A (p.Ser389Asn) SNV Uncertain significance 1028183 GRCh37: 2:197184448-197184448
GRCh38: 2:196319724-196319724
34 HECW2 NM_001348768.2(HECW2):c.1855C>G (p.Pro619Ala) SNV Uncertain significance 1028184 GRCh37: 2:197183759-197183759
GRCh38: 2:196319035-196319035
35 HECW2 NM_001348768.2(HECW2):c.1967T>C (p.Val656Ala) SNV Uncertain significance 1028185 GRCh37: 2:197183647-197183647
GRCh38: 2:196318923-196318923
36 HECW2 NM_001348768.2(HECW2):c.2261C>T (p.Pro754Leu) SNV Uncertain significance 1028186 GRCh37: 2:197183353-197183353
GRCh38: 2:196318629-196318629
37 HECW2 NM_001348768.2(HECW2):c.2846G>C (p.Cys949Ser) SNV Uncertain significance 1028187 GRCh37: 2:197157443-197157443
GRCh38: 2:196292719-196292719
38 HECW2 NM_001348768.2(HECW2):c.4706T>C (p.Phe1569Ser) SNV Uncertain significance 1028188 GRCh37: 2:197066014-197066014
GRCh38: 2:196201290-196201290
39 HECW2 NM_001348768.2(HECW2):c.1093C>G (p.Gln365Glu) SNV Uncertain significance 1032098 GRCh37: 2:197184521-197184521
GRCh38: 2:196319797-196319797
40 HECW2 NM_001348768.2(HECW2):c.1892G>A (p.Arg631Lys) SNV Uncertain significance 1032099 GRCh37: 2:197183722-197183722
GRCh38: 2:196318998-196318998
41 HECW2 NM_001348768.2(HECW2):c.2896C>T (p.Arg966Cys) SNV Uncertain significance 1032100 GRCh37: 2:197157393-197157393
GRCh38: 2:196292669-196292669
42 HECW2 NM_001348768.2(HECW2):c.452G>A (p.Arg151Gln) SNV Likely benign 801846 rs752395684 GRCh37: 2:197199191-197199191
GRCh38: 2:196334467-196334467

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

72
# 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

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
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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