NEDHELS
MCID: NRD091
MIFTS: 27

Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures (NEDHELS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurodevelopmental Disorder with Hypotonia and Impaired...

MalaCards integrated aliases for Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures:

Name: Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures 56
Dyskinesia, Seizures, and Intellectual Developmental Disorder 56 73 29 6
Dyseidd 56 73
Neurodevelopmental Disorder with Hypotonia, Impaired Expressive Language, and with or Without Seizures 56
Dyskinesia, Seizures, and Intellectual Developmental Disorder; Dyseidd 56
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome 58
Nedhels 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one consanguineous omani family has been reported (last curated october 2016)


HPO:

31
neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Neurodevelopmental Disorder with Hypotonia and Impaired...

OMIM : 56 Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures (NEDHELS) is an autosomal recessive disorder characterized by hypotonia, poor feeding, and global developmental delay apparent from infancy. Most patients have poor overall growth, poor eye contact, sleep disturbances, and severely impaired expressive language. Affected individuals also tend to have behavioral problems, microcephaly, and variable dysmorphic features; many develop seizures. Brain imaging may show enlarged ventricles, thin corpus callosum and brainstem, and white matter abnormalities. The phenotype is variable (summary by Nabais Sa et al., 2019). (617171)

MalaCards based summary : Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures, also known as dyskinesia, seizures, and intellectual developmental disorder, is related to deaf1-associated disorders. An important gene associated with Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures is DEAF1 (DEAF1 Transcription Factor). Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and sleep disturbance

UniProtKB/Swiss-Prot : 73 Dyskinesia, seizures, and intellectual developmental disorder: A neurodevelopmental disorder characterized by psychomotor delay, epilepsy, intellectual disability, speech impairment and dyskinesia of the limbs. Patients also manifest autistic features and other behavioral abnormalities. DYSEIDD transmission pattern is consistent with autosomal recessive inheritance.

Related Diseases for Neurodevelopmental Disorder with Hypotonia and Impaired...

Diseases related to Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deaf1-associated disorders 11.3

Symptoms & Phenotypes for Neurodevelopmental Disorder with Hypotonia and Impaired...

Human phenotypes related to Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 sleep disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002360
3 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
4 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
5 poor eye contact 58 31 hallmark (90%) Very frequent (99-80%) HP:0000817
6 brain imaging abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0410263
7 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
8 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
9 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
10 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
11 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
12 broad-based gait 58 31 frequent (33%) Frequent (79-30%) HP:0002136
13 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
14 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
15 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
16 tip-toe gait 58 31 frequent (33%) Frequent (79-30%) HP:0030051
17 abnormality of pain sensation 58 31 frequent (33%) Frequent (79-30%) HP:0010832
18 mood swings 58 31 frequent (33%) Frequent (79-30%) HP:0000720
19 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
20 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
21 waddling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002515
22 gait imbalance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002141
23 involuntary movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0004305
24 clumsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002312
25 status epilepticus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002133
26 unsteady gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002317
27 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
28 agitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000713
29 global developmental delay 31 HP:0001263
30 seizures 58 Occasional (29-5%)
31 dyskinesia 31 HP:0100660
32 eeg abnormality 31 HP:0002353
33 autistic behavior 58 Occasional (29-5%)
34 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
seizures
involuntary movements
status epilepticus
sleep disturbances
more
Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
agitation
mood swings
autistic features
aggression

Head And Neck Face:
involuntary facial movements

Clinical features from OMIM:

617171

Drugs & Therapeutics for Neurodevelopmental Disorder with Hypotonia and Impaired...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures

Genetic Tests for Neurodevelopmental Disorder with Hypotonia and Impaired...

Genetic tests related to Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures:

# Genetic test Affiliating Genes
1 Dyskinesia, Seizures, and Intellectual Developmental Disorder 29 DEAF1

Anatomical Context for Neurodevelopmental Disorder with Hypotonia and Impaired...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures:

40
Eye, Brain

Publications for Neurodevelopmental Disorder with Hypotonia and Impaired...

Articles related to Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures:

# Title Authors PMID Year
1
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. 6 56
26048982 2015
2
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1. 56
31929336 2020
3
A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype. 56
31688097 2020
4
De novo and biallelic DEAF1 variants cause a phenotypic spectrum. 56
30923367 2019
5
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 56
28940898 2017
6
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation. 56
26834045 2016
7
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. 56
24668509 2014
8
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. 56
24726472 2014
9
DEAF1 is a Pellino1-interacting protein required for interferon production by Sendai virus and double-stranded RNA. 56
23846693 2013

Variations for Neurodevelopmental Disorder with Hypotonia and Impaired...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DEAF1 NM_021008.4(DEAF1):c.571A>T (p.Lys191Ter)SNV Pathogenic 915944 11:688004-688004 11:688004-688004
2 DEAF1 NM_021008.4(DEAF1):c.1187del (p.Gly396fs)deletion Pathogenic 915945 11:678762-678762 11:678762-678762
3 DEAF1 NM_021008.4(DEAF1):c.1104_1105dup (p.Asp369fs)duplication Pathogenic 915953 11:679708-679709 11:679708-679709
4 DEAF1 NM_021008.4(DEAF1):c.1617dup (p.Cys540fs)duplication Pathogenic 915954 11:644630-644631 11:644630-644631
5 DEAF1 NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln)SNV Pathogenic 915957 11:686991-686991 11:686991-686991
6 DEAF1 NM_021008.3(DEAF1):c.997+4A>CSNV Pathogenic 267316 rs886040972 11:680959-680959 11:680959-680959
7 DEAF1 NM_021008.3(DEAF1):c.676C>T (p.Arg226Trp)SNV Likely pathogenic 143989 rs587777623 11:686986-686986 11:686986-686986
8 DEAF1 NM_021008.3(DEAF1):c.716A>G (p.Glu239Gly)SNV Uncertain significance 422488 rs1064795812 11:686946-686946 11:686946-686946
9 DEAF1 NM_021008.3(DEAF1):c.701G>A (p.Trp234Ter)SNV Uncertain significance 422489 rs1064795813 11:686961-686961 11:686961-686961
10 DEAF1 NM_021008.3(DEAF1):c.1621G>A (p.Gly541Ser)SNV Uncertain significance 585775 rs771661969 11:644627-644627 11:644627-644627

Expression for Neurodevelopmental Disorder with Hypotonia and Impaired...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures.

Pathways for Neurodevelopmental Disorder with Hypotonia and Impaired...

GO Terms for Neurodevelopmental Disorder with Hypotonia and Impaired...

Sources for Neurodevelopmental Disorder with Hypotonia and Impaired...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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