MCID: NRD040
MIFTS: 16

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

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)


Classifications:



External Ids:

OMIM 57 617807
MedGen 42 CN698604
MeSH 44 D065886

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

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)

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.

UniProtKB/Swiss-Prot : 75 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter: A 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.

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

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...

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 GRCh38 Chromosome 19, 8400024: 8400024
4 RAB11B NM_004218.3(RAB11B): c.202G> A (p.Ala68Thr) single nucleotide variant Pathogenic 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 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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