MCID: NRD055
MIFTS: 13

Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

MalaCards integrated aliases for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum:

Name: Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum 57 6
Nedehcc 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
one patient was in a vegetative state at age 13.5 years
three patients from 2 unrelated consanguineous families have been reported (last curated august 2018)


Classifications:



Summaries for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

MalaCards based summary : Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum, is also known as nedehcc. An important gene associated with Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum is LNPK (Lunapark, ER Junction Formation Factor). Related phenotypes are tremor and global developmental delay

Description from OMIM: 618090

Related Diseases for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
tremor
dysmetria
inability to walk
rigidity
more
Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
inattention
defects in social interactions

Growth Other:
poor overall growth


Clinical features from OMIM:

618090

Human phenotypes related to Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 tremor 32 HP:0001337
2 global developmental delay 32 HP:0001263
3 generalized myoclonic seizures 32 HP:0002123
4 absent speech 32 HP:0001344
5 dysmetria 32 HP:0001310
6 inability to walk 32 HP:0002540
7 rigidity 32 HP:0002063
8 cerebellar atrophy 32 HP:0001272
9 hypoplasia of the corpus callosum 32 HP:0002079
10 hyperactivity 32 HP:0000752

Drugs & Therapeutics for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum

Genetic Tests for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Anatomical Context for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Publications for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Variations for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LNPK NM_030650.2(LNPK): c.726delA (p.Pro243Leufs) deletion Pathogenic GRCh38 Chromosome 2, 175939638: 175939638
2 LNPK NM_030650.2(LNPK): c.726delA (p.Pro243Leufs) deletion Pathogenic GRCh37 Chromosome 2, 176804366: 176804366
3 LNPK NM_030650.2(LNPK): c.751C> T (p.Arg251Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 176804341: 176804341
4 LNPK NM_030650.2(LNPK): c.751C> T (p.Arg251Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 175939613: 175939613

Expression for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum.

Pathways for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

GO Terms for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Sources for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

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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