NEDAHM
MCID: NRD076
MIFTS: 16

Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly (NEDAHM)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Ataxia, Hypotonia, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly:

Name: Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly 56 73 6
Nedahm 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood


Classifications:



External Ids:

OMIM 56 618569
MeSH 43 D065886
MedGen 41 CN262279

Summaries for Neurodevelopmental Disorder with Ataxia, Hypotonia, and...

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly: An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, microcephaly, ataxia, and muscular hypotonia.

MalaCards based summary : Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly, is also known as nedahm. An important gene associated with Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly is SVBP (Small Vasohibin Binding Protein). Affiliated tissues include brain.

More information from OMIM: 618569

Related Diseases for Neurodevelopmental Disorder with Ataxia, Hypotonia, and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Ataxia, Hypotonia, and...

Symptoms via clinical synopsis from OMIM:

56
Chest External Features:
pectus excavatum
abnormal chest shape

Growth Height:
short stature

Muscle Soft Tissue:
hypotonia
hypertonia, lower limbs

Head And Neck Face:
coarse facies

Head And Neck Head:
microcephaly (-2.6 to -6.4)

Neurologic Central Nervous System:
hyperreflexia
ataxia
global developmental delay
lower limb spasticity
enlarged ventricles
more
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Skeletal Hands:
short metacarpals
short thumbs
wasting of the intrinsic hand muscles

Growth Other:
poor overall growth

Clinical features from OMIM:

618569

Drugs & Therapeutics for Neurodevelopmental Disorder with Ataxia, Hypotonia, and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly

Genetic Tests for Neurodevelopmental Disorder with Ataxia, Hypotonia, and...

Anatomical Context for Neurodevelopmental Disorder with Ataxia, Hypotonia, and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly:

40
Brain

Publications for Neurodevelopmental Disorder with Ataxia, Hypotonia, and...

Articles related to Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly:

# Title Authors PMID Year
1
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice. 56 6
31363758 2019
2
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia. 56 6
30607023 2019

Variations for Neurodevelopmental Disorder with Ataxia, Hypotonia, and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SVBP NM_199342.4(SVBP):c.82C>T (p.Gln28Ter)SNV Pathogenic 635968 1:43282134-43282134 1:42816463-42816463
2 SVBP NM_199342.4(SVBP):c.39_42del (p.Lys13fs)deletion Pathogenic 635969 1:43282174-43282177 1:42816503-42816506

Expression for Neurodevelopmental Disorder with Ataxia, Hypotonia, and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly.

Pathways for Neurodevelopmental Disorder with Ataxia, Hypotonia, and...

GO Terms for Neurodevelopmental Disorder with Ataxia, Hypotonia, and...

Sources for Neurodevelopmental Disorder with Ataxia, Hypotonia, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....