NDPLHS
MCID: NRD045
MIFTS: 20

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 57 72 29 6
Ndplhs 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in first years of life


HPO:

31
neurodevelopmental disorder with poor language and loss of hand skills:
Inheritance autosomal dominant inheritance


Classifications:



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) (Updated 20-May-2021)

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 seizure and macrocephaly

UniProtKB/Swiss-Prot : 72 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:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizure 31 very rare (1%) HP:0001250
2 macrocephaly 31 HP:0000256
3 intellectual disability 31 HP:0001249
4 gait disturbance 31 HP:0001288
5 developmental regression 31 HP:0002376
6 microcephaly 31 HP:0000252
7 ventriculomegaly 31 HP:0002119
8 apnea 31 HP:0002104
9 dystonia 31 HP:0001332
10 small hand 31 HP:0200055
11 short foot 31 HP:0001773
12 bruxism 31 HP:0003763
13 hyperventilation 31 HP:0002883
14 agitation 31 HP:0000713
15 abnormal autonomic nervous system physiology 31 HP:0012332

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly
microcephaly

Neurologic Behavioral Psychiatric Manifestations:
bruxism
hyperventilation
agitation
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 (Updated 20-May-2021)

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 29 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 PMID Year
1
A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype. 6 57
29369404 2018
2
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. 57 6
28856709 2017
3
Identification of novel genetic causes of Rett syndrome-like phenotypes. 6 57
26740508 2016
4
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 6
29100083 2017

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 Name Type Significance ClinVarId dbSNP ID Position
1 GABBR2 NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) SNV Pathogenic 446211 rs922847767 GRCh37: 9:101133817-101133817
GRCh38: 9:98371535-98371535
2 GABBR2 NM_005458.8(GABBR2):c.2119G>A (p.Ala707Thr) SNV Pathogenic 496592 rs1554689313 GRCh37: 9:101068513-101068513
GRCh38: 9:98306231-98306231

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

72
# Symbol AA change Variation ID SNP ID
1 GABBR2 p.Ala567Thr VAR_079029 rs922847767
2 GABBR2 p.Ala707Thr VAR_080572 rs155468931

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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