NDAGSCW
MCID: NRD040
MIFTS: 22

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 72 29 6
Ndagscw 57 72
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, Decreased Cortical White Matter 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter:
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 72 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 eye and brain, and related phenotypes are seizure and spasticity

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) (Updated 20-May-2021)

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:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 seizure 31 very rare (1%) HP:0001250
2 spasticity 31 HP:0001257
3 nystagmus 31 HP:0000639
4 global developmental delay 31 HP:0001263
5 hip dysplasia 31 HP:0001385
6 abnormal facial shape 31 HP:0001999
7 microcephaly 31 HP:0000252
8 visual impairment 31 HP:0000505
9 optic atrophy 31 HP:0000648
10 stereotypy 31 HP:0000733
11 strabismus 31 HP:0000486
12 absent speech 31 HP:0001344
13 talipes equinovarus 31 HP:0001762
14 upslanted palpebral fissure 31 HP:0000582
15 dystonia 31 HP:0001332
16 pes cavus 31 HP:0001761
17 tented upper lip vermilion 31 HP:0010804
18 tapered finger 31 HP:0001182
19 gait ataxia 31 HP:0002066
20 poor eye contact 31 HP:0000817
21 feeding difficulties 31 HP:0011968
22 single transverse palmar crease 31 HP:0000954
23 cerebellar vermis hypoplasia 31 HP:0001320
24 generalized hypotonia 31 HP:0001290
25 unsteady gait 31 HP:0002317
26 difficulty walking 31 HP:0002355
27 abnormality of the pinna 31 HP:0000377
28 hypermetropia 31 HP:0000540
29 clinodactyly 31 HP:0030084
30 facial hypotonia 31 HP:0000297
31 overlapping toe 31 HP:0001845
32 delayed myelination 31 HP:0012448
33 happy demeanor 31 HP:0040082
34 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
absent speech
dystonia
cerebellar vermis hypoplasia
unsteady gait
more
Skeletal Pelvis:
hip dysplasia

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
poor eye contact
hypermetropia
more
Skeletal Feet:
pes cavus
pes equinovarus
overriding toes

Skeletal Hands:
clinodactyly
simian crease
tapering fingers

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 (Updated 20-May-2021)

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...

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

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 29 RAB11B

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:

40
Eye, Brain

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 PMID Year
1
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. 57 6
29106825 2017

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAB11B NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr) SNV Likely pathogenic 453255 rs1555690804 GRCh37: 19:8464908-8464908
GRCh38: 19:8400024-8400024
2 RAB11B NM_004218.4(RAB11B):c.64G>A (p.Val22Met) SNV Likely pathogenic 453254 rs1555690779 GRCh37: 19:8464770-8464770
GRCh38: 19:8399886-8399886
3 RAB11B NM_004218.4(RAB11B):c.583G>A (p.Val195Met) SNV Uncertain significance 1028706 GRCh37: 19:8468368-8468368
GRCh38: 19:8403484-8403484

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

72
# Symbol AA change Variation ID SNP ID
1 RAB11B p.Val22Met VAR_080598 rs155569077
2 RAB11B p.Ala68Thr VAR_080599 rs155569080

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
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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