NDAGSCW
MCID: NRD040
MIFTS: 20

Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter (NDAGSCW)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter:

Name: Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 57 75 6
Ndagscw 57 75
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, Decreased Cortical White Matter 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation
patients are severely disabled, but some can perform simple tasks
five unrelated patients have been reported (last curated december 2017)


HPO:

32
neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter:
Onset and clinical course phenotypic variability


Classifications:



Summaries for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and...

UniProtKB/Swiss-Prot : 75 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter: An autosomal dominant neurodevelopmental disorder apparent in infancy and characterized by severe intellectual disability with absent speech, epilepsy, and hypotonia. Additionally, visual problems, musculoskeletal abnormalities, and microcephaly can be present. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem.

MalaCards based summary : Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter, is also known as ndagscw. An important gene associated with Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter is RAB11B (RAB11B, Member RAS Oncogene Family). Affiliated tissues include brain and eye, and related phenotypes are clinodactyly and nystagmus

OMIM : 57 NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017). (617807)

Related Diseases for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and...

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
simian crease
tapering fingers

Neurologic Central Nervous System:
spasticity
absent speech
dystonia
difficulty walking
cerebellar vermis hypoplasia
more
Abdomen Gastrointestinal:
feeding difficulties

Neurologic Behavioral Psychiatric Manifestations:
happy demeanor
stereotypic behavior

Head And Neck Ears:
dysplastic ears

Head And Neck Face:
hypotonic facies
dysmorphic facial features, variable

Head And Neck Eyes:
nystagmus
optic atrophy
strabismus
hypermetropia
poor eye contact
more
Skeletal Pelvis:
hip dysplasia

Skeletal Feet:
pes cavus
pes equinovarus
overriding toes

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
tented mouth

Head And Neck Head:
microcephaly (-3 to -4 sd, in some patients)


Clinical features from OMIM:

617807

Human phenotypes related to Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 32 HP:0030084
2 nystagmus 32 HP:0000639
3 seizures 32 very rare (1%) HP:0001250
4 spasticity 32 HP:0001257
5 global developmental delay 32 HP:0001263
6 abnormal facial shape 32 HP:0001999
7 visual impairment 32 HP:0000505
8 optic atrophy 32 HP:0000648
9 stereotypy 32 HP:0000733
10 strabismus 32 HP:0000486
11 absent speech 32 HP:0001344
12 gait ataxia 32 HP:0002066
13 pes cavus 32 HP:0001761
14 dystonia 32 HP:0001332
15 talipes equinovarus 32 HP:0001762
16 upslanted palpebral fissure 32 HP:0000582
17 difficulty walking 32 HP:0002355
18 tapered finger 32 HP:0001182
19 single transverse palmar crease 32 HP:0000954
20 cerebellar vermis hypoplasia 32 HP:0001320
21 unsteady gait 32 HP:0002317
22 hypermetropia 32 HP:0000540
23 facial hypotonia 32 HP:0000297
24 happy demeanor 32 HP:0040082
25 overlapping toe 32 HP:0001845
26 poor eye contact 32 HP:0000817
27 delayed myelination 32 HP:0012448

Drugs & Therapeutics for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter

Genetic Tests for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and...

Anatomical Context for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter:

41
Brain, Eye

Publications for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and...

Variations for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and...

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter:

75
# Symbol AA change Variation ID SNP ID
1 RAB11B p.Val22Met VAR_080598
2 RAB11B p.Ala68Thr VAR_080599

ClinVar genetic disease variations for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAB11B NM_004218.3(RAB11B): c.64G> A (p.Val22Met) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 8464770: 8464770
2 RAB11B NM_004218.3(RAB11B): c.64G> A (p.Val22Met) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 8399886: 8399886
3 RAB11B NM_004218.3(RAB11B): c.202G> A (p.Ala68Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 8464908: 8464908
4 RAB11B NM_004218.3(RAB11B): c.202G> A (p.Ala68Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 8400024: 8400024

Expression for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter.

Pathways for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and...

GO Terms for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and...

Sources for Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and...

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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