NEDAHM
MCID: NRD076
MIFTS: 19

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 57 73 6 39 17
Nedahm 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood


HPO:

31
neurodevelopmental disorder with ataxia, hypotonia, and microcephaly:
Inheritance autosomal recessive inheritance


Classifications:



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, and related phenotypes are intellectual disability and spasticity

More information from OMIM: 618569

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

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

Human phenotypes related to Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 spasticity 31 very rare (1%) HP:0001257
3 hypothyroidism 31 very rare (1%) HP:0000821
4 coarse facial features 31 very rare (1%) HP:0000280
5 wide nasal bridge 31 very rare (1%) HP:0000431
6 delayed speech and language development 31 very rare (1%) HP:0000750
7 prominent forehead 31 very rare (1%) HP:0011220
8 short 4th metacarpal 31 very rare (1%) HP:0010044
9 short 5th metacarpal 31 very rare (1%) HP:0010047
10 epicanthus 31 very rare (1%) HP:0000286
11 motor delay 31 very rare (1%) HP:0001270
12 preauricular skin tag 31 very rare (1%) HP:0000384
13 low anterior hairline 31 very rare (1%) HP:0000294
14 split hand 31 very rare (1%) HP:0001171
15 short thumb 31 very rare (1%) HP:0009778
16 tapered finger 31 very rare (1%) HP:0001182
17 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
18 status epilepticus 31 very rare (1%) HP:0002133
19 autistic behavior 31 very rare (1%) HP:0000729
20 short 3rd toe 31 very rare (1%) HP:0005643
21 dry hair 31 very rare (1%) HP:0011359
22 bimanual synkinesia 31 very rare (1%) HP:0001335
23 intrinsic hand muscle atrophy 31 very rare (1%) HP:0008954
24 short 4th toe 31 very rare (1%) HP:0008093
25 short 3rd metacarpal 31 very rare (1%) HP:0010041
26 dysplastic corpus callosum 31 very rare (1%) HP:0006989
27 muscular ventricular septal defect 31 very rare (1%) HP:0011623
28 head-banging 31 very rare (1%) HP:0012168
29 2-4 toe cutaneous syndactyly 31 very rare (1%) HP:0005768
30 mongolian blue spot 31 very rare (1%) HP:0011369
31 microcephaly 31 HP:0000252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
ataxia
global developmental delay
lower limb spasticity
enlarged ventricles
more
Chest External Features:
pectus excavatum
abnormal chest shape

Muscle Soft Tissue:
hypotonia
hypertonia, lower limbs

Head And Neck Face:
coarse facies

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

Growth Height:
short stature

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 (Updated 05-Mar-2021)

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. 57 6
31363758 2019
2
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia. 57 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 rs1570520175 1:43282134-43282134 1:42816463-42816463
2 SVBP NM_199342.4(SVBP):c.39_42del (p.Lys13fs) Deletion Pathogenic 635969 rs1570520229 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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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