CMND
MCID: NRD051
MIFTS: 16

Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness (CMND)

Categories: Ear diseases, Genetic diseases, Neuronal diseases

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

MalaCards integrated aliases for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness:

Name: Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness 57
Myopathy, Congenital, with Neuropathy and Deafness 57 75 6
Cmnd 57 75
Myopathy, Congenital, with Neuropathy and Deafness; Cmnd 57
Nedhnd 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
neurodevelopmental disorder with hypotonia, neuropathy, and deafness:
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 617519
MeSH 44 D009468

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

UniProtKB/Swiss-Prot : 75 Myopathy, congenital, with neuropathy and deafness: An autosomal recessive congenital myopathy characterized by hypotonia and muscle weakness manifesting after birth and progressing to generalized muscle atrophy, central deafness with absent brainstem- evoked potentials, and a combined axonal and demyelinating motor neuropathy.

MalaCards based summary : Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness, is also known as myopathy, congenital, with neuropathy and deafness. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness is SPTBN4 (Spectrin Beta, Non-Erythrocytic 4). Related phenotypes are facial palsy and global developmental delay

Description from OMIM: 617519

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

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
absent speech
seizures (in some patients)
delayed psychomotor development, profound
hypotonia, profound
inability to sit or stand

Head And Neck Face:
myopathic facies
facial weakness

Head And Neck Mouth:
high-arched palate

Laboratory Abnormalities:
normal serum creatine kinase

Skeletal Feet:
ankle contractures

Abdomen Gastrointestinal:
feeding difficulties

Neurologic Peripheral Nervous System:
areflexia
axonal and demyelinating peripheral neuropathy

Head And Neck Eyes:
cortical visual impairment

Head And Neck Ears:
auditory neuropathy
deafness, central
absent brainstem evoked potentials

Muscle Soft Tissue:
hypotonia, severe
generalized muscle atrophy
type 1 fiber atrophy
neurogenic pattern seen on emg
denervation atrophy

Head And Neck Head:
absent head control


Clinical features from OMIM:

617519

Human phenotypes related to Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 facial palsy 32 HP:0010628
2 global developmental delay 32 HP:0001263
3 absent speech 32 HP:0001344
4 areflexia 32 HP:0001284
5 myopathic facies 32 HP:0002058
6 severe muscular hypotonia 32 HP:0006829
7 generalized amyotrophy 32 HP:0003700
8 demyelinating peripheral neuropathy 32 HP:0007108
9 distal amyotrophy 32 HP:0003693

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

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness

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

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

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

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

ClinVar genetic disease variations for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTBN4 NM_020971.2(SPTBN4): c.2709G> A (p.Trp903Ter) single nucleotide variant Uncertain significance rs864309618 GRCh38 Chromosome 19, 40513498: 40513498
2 SPTBN4 NM_020971.2(SPTBN4): c.2709G> A (p.Trp903Ter) single nucleotide variant Uncertain significance rs864309618 GRCh37 Chromosome 19, 41019405: 41019405
3 SPTBN4 NM_020971.2(SPTBN4): c.1597C> T (p.Gln533Ter) single nucleotide variant Pathogenic rs1114167445 GRCh37 Chromosome 19, 41009971: 41009971
4 SPTBN4 NM_020971.2(SPTBN4): c.1597C> T (p.Gln533Ter) single nucleotide variant Pathogenic rs1114167445 GRCh38 Chromosome 19, 40504064: 40504064
5 SPTBN4 NM_020971.2(SPTBN4): c.3820G> T (p.Glu1274Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 40523602: 40523602
6 SPTBN4 NM_020971.2(SPTBN4): c.3820G> T (p.Glu1274Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 41029509: 41029509
7 SPTBN4 NM_020971.2(SPTBN4): c.1511G> A (p.Arg504Gln) single nucleotide variant Pathogenic rs765087147 GRCh37 Chromosome 19, 41009885: 41009885
8 SPTBN4 NM_020971.2(SPTBN4): c.1511G> A (p.Arg504Gln) single nucleotide variant Pathogenic rs765087147 GRCh38 Chromosome 19, 40503978: 40503978
9 SPTBN4 NM_020971.2(SPTBN4): c.7303C> T (p.Arg2435Cys) single nucleotide variant Pathogenic rs777273785 GRCh38 Chromosome 19, 40570712: 40570712
10 SPTBN4 NM_020971.2(SPTBN4): c.7303C> T (p.Arg2435Cys) single nucleotide variant Pathogenic rs777273785 GRCh37 Chromosome 19, 41076618: 41076618
11 SPTBN4 NM_020971.2(SPTBN4): c.7453delG (p.Ala2485Leufs) deletion Pathogenic GRCh38 Chromosome 19, 40572152: 40572152
12 SPTBN4 NM_020971.2(SPTBN4): c.7453delG (p.Ala2485Leufs) deletion Pathogenic GRCh37 Chromosome 19, 41078058: 41078058

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

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness.

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

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

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

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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
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45 MESH via Orphanet
46 MGI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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