MCID: NRD054
MIFTS: 16

Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

MalaCards integrated aliases for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures:

Name: Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 57 6
Nedamss 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
de novo mutation
onset in infancy or childhood


HPO:

32
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures:
Onset and clinical course progressive


Classifications:



Summaries for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

MalaCards based summary : Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures, is also known as nedamss. An important gene associated with Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures is IRF2BPL (Interferon Regulatory Factor 2 Binding Protein Like). Affiliated tissues include brain and eye, and related phenotypes are nystagmus and intellectual disability

Description from OMIM: 618088

Related Diseases for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
esotropia
gaze palsies
eye movement abnormalities (in some patients)
decreased saccades

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
dysphagia
dysmetria
more
Head And Neck Face:
facial weakness


Clinical features from OMIM:

618088

Human phenotypes related to Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 spasticity 32 HP:0001257
5 dysarthria 32 HP:0001260
6 dysphagia 32 HP:0002015
7 developmental regression 32 HP:0002376
8 global developmental delay 32 HP:0001263
9 dysmetria 32 HP:0001310
10 dystonia 32 HP:0001332
11 choreoathetosis 32 HP:0001266
12 cerebellar atrophy 32 HP:0001272
13 corpus callosum atrophy 32 HP:0007371
14 cerebral atrophy 32 HP:0002059
15 esotropia 32 HP:0000565
16 loss of speech 32 HP:0002371

Drugs & Therapeutics for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures

Genetic Tests for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

Anatomical Context for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures:

41
Brain, Eye

Publications for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

Variations for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF2BPL NM_024496.3(IRF2BPL): c.562C> T (p.Arg188Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 77027231: 77027231
2 IRF2BPL NM_024496.3(IRF2BPL): c.562C> T (p.Arg188Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 77493574: 77493574
3 IRF2BPL NM_024496.3(IRF2BPL): c.379C> T (p.Gln127Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 77027414: 77027414
4 IRF2BPL NM_024496.3(IRF2BPL): c.379C> T (p.Gln127Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 77493757: 77493757
5 IRF2BPL NM_024496.3(IRF2BPL): c.376C> T (p.Gln126Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 77027417: 77027417
6 IRF2BPL NM_024496.3(IRF2BPL): c.376C> T (p.Gln126Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 77493760: 77493760
7 IRF2BPL NM_024496.3(IRF2BPL): c.1115C> G (p.Pro372Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 77026678: 77026678
8 IRF2BPL NM_024496.3(IRF2BPL): c.1115C> G (p.Pro372Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 77493021: 77493021
9 IRF2BPL NM_024496.3(IRF2BPL): c.1254G> C (p.Lys418Asn) single nucleotide variant Pathogenic rs201073695 GRCh38 Chromosome 14, 77026539: 77026539
10 IRF2BPL NM_024496.3(IRF2BPL): c.1254G> C (p.Lys418Asn) single nucleotide variant Pathogenic rs201073695 GRCh37 Chromosome 14, 77492882: 77492882

Expression for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures.

Pathways for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

GO Terms for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

Sources for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

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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