NDPLHS
MCID: NRD045
MIFTS: 19

Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills (NDPLHS)

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 58 76 30 6
Ndplhs 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in first years of life


Classifications:



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

OMIM : 58 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 phenotypes are seizures and macrocephaly

UniProtKB/Swiss-Prot : 76 Neurodevelopmental disorder with poor language and loss of hand skills: An autosomal dominant disorder characterized by psychomotor developmental stagnation or regression. NDPLHS manifest in the first years of life as loss of purposeful hand movements, loss of language, and intellectual disability.

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

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

Human phenotypes related to Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 macrocephaly 33 HP:0000256
3 intellectual disability 33 HP:0001249
4 gait disturbance 33 HP:0001288
5 developmental regression 33 HP:0002376
6 microcephaly 33 HP:0000252
7 short foot 33 HP:0001773
8 dystonia 33 HP:0001332
9 apnea 33 HP:0002104
10 ventriculomegaly 33 HP:0002119
11 small hand 33 HP:0200055
12 agitation 33 HP:0000713
13 abnormal autonomic nervous system physiology 33 HP:0012332
14 hyperventilation 33 HP:0002883
15 bruxism 33 HP:0003763

Symptoms via clinical synopsis from OMIM:

58
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
sleep disturbances
enlarged ventricles
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...

Genetic tests related to Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills 30 GABBR2

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

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

Articles related to Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills:

# Title Authors Year
1
A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype. ( 29369404 )
2018
2
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. ( 28856709 )
2017
3
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. ( 29100083 )
2017
4
Identification of novel genetic causes of Rett syndrome-like phenotypes. ( 26740508 )
2016

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

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills:

76
# Symbol AA change Variation ID SNP ID
1 GABBR2 p.Ala567Thr VAR_079029 rs922847767
2 GABBR2 p.Ala707Thr VAR_080572

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 rs1554689313 GRCh37 Chromosome 9, 101068513: 101068513
4 GABBR2 NM_005458.7(GABBR2): c.2119G> A (p.Ala707Thr) single nucleotide variant Pathogenic rs1554689313 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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