MCID: NRD045
MIFTS: 11

Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Poor Language and Loss of Hand...

MalaCards integrated aliases for Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills:

Name: Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills 57 6
Ndplhs 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in first years of life


Classifications:



External Ids:

OMIM 57 617903

Summaries for Neurodevelopmental Disorder with Poor Language and Loss of Hand...

OMIM : 57 NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome (RTT; 312750) (summary by Yoo et al., 2017). (617903)

MalaCards based summary : Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills, is also known as ndplhs. An important gene associated with Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills is GABBR2 (Gamma-Aminobutyric Acid Type B Receptor Subunit 2).

Related Diseases for Neurodevelopmental Disorder with Poor Language and Loss of Hand...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Poor Language and Loss of Hand...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
microcephaly

Neurologic Behavioral Psychiatric Manifestations:
agitation
hyperventilation
bruxism
autistic features
stereotypic movements

Skeletal Hands:
small hands
cold hands

Neurologic Central Nervous System:
intellectual disability
developmental regression
dystonia
enlarged ventricles
sleep disturbances
more
Respiratory:
hyperventilation
apneic episodes
breathing abnormalities

Skeletal Feet:
small feet
cold feet


Clinical features from OMIM:

617903

Drugs & Therapeutics for Neurodevelopmental Disorder with Poor Language and Loss of Hand...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills

Genetic Tests for Neurodevelopmental Disorder with Poor Language and Loss of Hand...

Anatomical Context for Neurodevelopmental Disorder with Poor Language and Loss of Hand...

Publications for Neurodevelopmental Disorder with Poor Language and Loss of Hand...

Variations for Neurodevelopmental Disorder with Poor Language and Loss of Hand...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GABBR2 NM_005458.7(GABBR2): c.1699G> A (p.Ala567Thr) single nucleotide variant Pathogenic rs922847767 GRCh37 Chromosome 9, 101133817: 101133817
2 GABBR2 NM_005458.7(GABBR2): c.1699G> A (p.Ala567Thr) single nucleotide variant Pathogenic rs922847767 GRCh38 Chromosome 9, 98371535: 98371535
3 GABBR2 NM_005458.7(GABBR2): c.2119G> A (p.Ala707Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 101068513: 101068513
4 GABBR2 NM_005458.7(GABBR2): c.2119G> A (p.Ala707Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 98306231: 98306231

Expression for Neurodevelopmental Disorder with Poor Language and Loss of Hand...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills.

Pathways for Neurodevelopmental Disorder with Poor Language and Loss of Hand...

GO Terms for Neurodevelopmental Disorder with Poor Language and Loss of Hand...

Sources for Neurodevelopmental Disorder with Poor Language and Loss of Hand...

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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