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 58 76 6
Ndagscw 58 76
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, Decreased Cortical White Matter 41

Characteristics:

OMIM:

58
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)


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 seizures and clinodactyly

OMIM : 58 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...

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

33 (show all 28)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 clinodactyly 33 HP:0030084
3 nystagmus 33 HP:0000639
4 spasticity 33 HP:0001257
5 global developmental delay 33 HP:0001263
6 abnormal facial shape 33 HP:0001999
7 visual impairment 33 HP:0000505
8 optic atrophy 33 HP:0000648
9 stereotypy 33 HP:0000733
10 strabismus 33 HP:0000486
11 absent speech 33 HP:0001344
12 gait ataxia 33 HP:0002066
13 pes cavus 33 HP:0001761
14 dystonia 33 HP:0001332
15 talipes equinovarus 33 HP:0001762
16 upslanted palpebral fissure 33 HP:0000582
17 difficulty walking 33 HP:0002355
18 tapered finger 33 HP:0001182
19 single transverse palmar crease 33 HP:0000954
20 cerebellar vermis hypoplasia 33 HP:0001320
21 unsteady gait 33 HP:0002317
22 hypermetropia 33 HP:0000540
23 facial hypotonia 33 HP:0000297
24 happy demeanor 33 HP:0040082
25 overlapping toe 33 HP:0001845
26 poor eye contact 33 HP:0000817
27 delayed myelination 33 HP:0012448
28 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
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:
dysmorphic facial features, variable
hypotonic facies

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

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:

42
Brain, Eye

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

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

# Title Authors Year
1
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. ( 29106825 )
2017

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:

76
# 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_004218.4(RAB11B): c.64G> A (p.Val22Met) single nucleotide variant Likely pathogenic rs1555690779 GRCh37 Chromosome 19, 8464770: 8464770
2 RAB11B NM_004218.4(RAB11B): c.64G> A (p.Val22Met) single nucleotide variant Likely pathogenic rs1555690779 GRCh38 Chromosome 19, 8399886: 8399886
3 RAB11B NM_004218.4(RAB11B): c.202G> A (p.Ala68Thr) single nucleotide variant Likely pathogenic rs1555690804 GRCh38 Chromosome 19, 8400024: 8400024
4 RAB11B NM_004218.4(RAB11B): c.202G> A (p.Ala68Thr) single nucleotide variant Likely pathogenic rs1555690804 GRCh37 Chromosome 19, 8464908: 8464908

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 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
Content
Loading form....