NDPLHS
MCID: NRD045
MIFTS: 16

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 75 6
Ndplhs 57 75

Characteristics:

OMIM:

57
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 : 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 phenotypes are macrocephaly and intellectual disability

UniProtKB/Swiss-Prot : 75 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...

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

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

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 intellectual disability 32 HP:0001249
3 seizures 32 very rare (1%) HP:0001250
4 gait disturbance 32 HP:0001288
5 developmental regression 32 HP:0002376
6 microcephaly 32 HP:0000252
7 short foot 32 HP:0001773
8 dystonia 32 HP:0001332
9 apnea 32 HP:0002104
10 ventriculomegaly 32 HP:0002119
11 small hand 32 HP:0200055
12 agitation 32 HP:0000713
13 hyperventilation 32 HP:0002883
14 abnormal autonomic nervous system physiology 32 HP:0012332
15 bruxism 32 HP:0003763

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...

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

75
# 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 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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