NEDALVS
MCID: NRD084
MIFTS: 21

Neurodevelopmental Disorder with Absent Language and Variable Seizures (NEDALVS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Absent Language and Variable...

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

Name: Neurodevelopmental Disorder with Absent Language and Variable Seizures 57 73 29 6 17
Ito-Raymond Syndrome 57 73
Nedalvs 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
five unrelated adult patients have been reported (last curated december 2019)


HPO:

31
neurodevelopmental disorder with absent language and variable seizures:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Absent Language and Variable...

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with absent language and variable seizures: A disorder characterized by neurodevelopmental abnormalities, including moderate to profound intellectual disability, with autistic features, seizures, severe impairments in speech, and gross motor delay.

MalaCards based summary : Neurodevelopmental Disorder with Absent Language and Variable Seizures, is also known as ito-raymond syndrome. An important gene associated with Neurodevelopmental Disorder with Absent Language and Variable Seizures is WASF1 (WASP Family Member 1). Affiliated tissues include eye and brain, and related phenotypes are developmental regression and self-injurious behavior

More information from OMIM: 618707

Related Diseases for Neurodevelopmental Disorder with Absent Language and Variable...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Absent Language and Variable...

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

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 developmental regression 31 very rare (1%) HP:0002376
2 self-injurious behavior 31 very rare (1%) HP:0100716
3 delayed speech and language development 31 very rare (1%) HP:0000750
4 pes planus 31 very rare (1%) HP:0001763
5 intellectual disability, severe 31 very rare (1%) HP:0010864
6 strabismus 31 very rare (1%) HP:0000486
7 genu recurvatum 31 very rare (1%) HP:0002816
8 wide intermamillary distance 31 very rare (1%) HP:0006610
9 inverted nipples 31 very rare (1%) HP:0003186
10 upslanted palpebral fissure 31 very rare (1%) HP:0000582
11 deeply set eye 31 very rare (1%) HP:0000490
12 ventriculomegaly 31 very rare (1%) HP:0002119
13 joint hyperflexibility 31 very rare (1%) HP:0005692
14 proptosis 31 very rare (1%) HP:0000520
15 reduced visual acuity 31 very rare (1%) HP:0007663
16 recurrent urinary tract infections 31 very rare (1%) HP:0000010
17 blue sclerae 31 very rare (1%) HP:0000592
18 midface retrusion 31 very rare (1%) HP:0011800
19 tapered finger 31 very rare (1%) HP:0001182
20 broad-based gait 31 very rare (1%) HP:0002136
21 feeding difficulties 31 very rare (1%) HP:0011968
22 cafe-au-lait spot 31 very rare (1%) HP:0000957
23 generalized hypotonia 31 very rare (1%) HP:0001290
24 short 3rd toe 31 very rare (1%) HP:0005643
25 short 4th toe 31 very rare (1%) HP:0008093
26 chronic constipation 31 very rare (1%) HP:0012450
27 delayed ability to sit 31 very rare (1%) HP:0025336
28 delayed ability to walk 31 very rare (1%) HP:0031936
29 seizure 31 very rare (1%) HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Gastrointestinal:
constipation
feeding difficulties

Head And Neck Eyes:
strabismus
deep-set eyes
upslanting palpebral fissures
exophthalmia
gray sclera
more
Skeletal:
joint hypermobility

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features
auto-mutilation

Genitourinary Bladder:
urinary tract infections, recurrent (in some patients)

Skeletal Feet:
pes planus
short toes

Chest Breasts:
inverted nipples
widely spaced nipples

Neurologic Central Nervous System:
unsteady gait
delayed motor development
delayed walking
impaired intellectual development, severe to profound
absent language
more
Head And Neck Face:
midface hypoplasia

Skeletal Hands:
tapered fingers

Skeletal Limbs:
ankle valgus

Clinical features from OMIM®:

618707 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Absent Language and Variable...

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

Genetic Tests for Neurodevelopmental Disorder with Absent Language and Variable...

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

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Absent Language and Variable Seizures 29 WASF1

Anatomical Context for Neurodevelopmental Disorder with Absent Language and Variable...

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

40
Eye, Brain

Publications for Neurodevelopmental Disorder with Absent Language and Variable...

Articles related to Neurodevelopmental Disorder with Absent Language and Variable Seizures:

# Title Authors PMID Year
1
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. 57 6
29961568 2018

Variations for Neurodevelopmental Disorder with Absent Language and Variable...

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WASF1 NM_003931.3(WASF1):c.1516C>T (p.Arg506Ter) SNV Pathogenic 561980 rs1562159562 6:110422797-110422797 6:110101594-110101594
2 WASF1 NM_003931.3(WASF1):c.1558C>T (p.Gln520Ter) SNV Pathogenic 561981 rs1562159088 6:110421847-110421847 6:110100644-110100644
3 WASF1 NM_003931.3(WASF1):c.1482delinsGCCAGG (p.Ile494fs) Indel Pathogenic 561982 rs1562159599 6:110422831-110422831 6:110101628-110101628

Expression for Neurodevelopmental Disorder with Absent Language and Variable...

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

Pathways for Neurodevelopmental Disorder with Absent Language and Variable...

GO Terms for Neurodevelopmental Disorder with Absent Language and Variable...

Sources for Neurodevelopmental Disorder with Absent Language and Variable...

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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