NEDMAGA
MCID: NRD044
MIFTS: 17

Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features (NEDMAGA)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal...

MalaCards integrated aliases for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features:

Name: Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features 57 75 6
Nedmaga 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
seven unrelated patients have been reported (last curated february 2018)


HPO:

32
neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features:
Onset and clinical course infantile onset


Classifications:



Summaries for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal...

UniProtKB/Swiss-Prot : 75 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features: An autosomal dominant neurodevelopmental disorder characterized by infantile-onset global developmental delay, severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy.

MalaCards based summary : Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features, is also known as nedmaga. An important gene associated with Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features is ZSWIM6 (Zinc Finger SWIM-Type Containing 6). Affiliated tissues include tongue, and related phenotypes are macrocephaly and intellectual disability

OMIM : 57 NEDMAGA is a neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017). (617865)

Related Diseases for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal...

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Head And Neck Face:
prominent supraorbital ridges
prominent forehead
coarse features (in some patients)
no evidence of frontonasal dysostosis

Neurologic Central Nervous System:
global developmental delay
unsteady gait
broad-based gait
high pain threshold
loss of ambulation
more
Muscle Soft Tissue:
hypertonia
hypotonia

Head And Neck Mouth:
open mouth
downturned corners of the mouth
everted lower lip
paroxysmal tongue movements

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
happy demeanor
autistic features
stereotypic movements
repetitive behavior

Head And Neck Head:
macrocephaly (1 patient)
microcephaly, progressive (3 patients)

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
poor feeding

Head And Neck Teeth:
widely spaced teeth

Head And Neck Nose:
depressed nasal bridge
short nose
broad columella
blunt nasal tip

Head And Neck Eyes:
strabismus
esotropia
thick eyebrows
fine arched eyebrows

Neurologic Peripheral Nervous System:
hyporeflexia
peripheral mixed axonal and demyelinating neuropathy (in 1 patient)
sural nerve biopsy shows reduced density and thickness of myelin fibers
abnormal accumulation of neurofilaments

Skeletal Feet:
foot deformities (in some patients)


Clinical features from OMIM:

617865

Human phenotypes related to Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 very rare (1%) HP:0000256
2 intellectual disability 32 HP:0001249
3 constipation 32 HP:0002019
4 prominent supraorbital ridges 32 HP:0000336
5 global developmental delay 32 HP:0001263
6 depressed nasal bridge 32 HP:0005280
7 short nose 32 HP:0003196
8 thick eyebrow 32 HP:0000574
9 hypertonia 32 HP:0001276
10 gastroesophageal reflux 32 HP:0002020
11 prominent forehead 32 HP:0011220
12 feeding difficulties 32 HP:0011968
13 everted lower lip vermilion 32 HP:0000232
14 absent speech 32 HP:0001344
15 open mouth 32 HP:0000194
16 downturned corners of mouth 32 HP:0002714
17 hyporeflexia 32 HP:0001265
18 generalized hypotonia 32 HP:0001290
19 hyperactivity 32 HP:0000752
20 broad columella 32 HP:0010761
21 esotropia 32 HP:0000565
22 unsteady gait 32 HP:0002317
23 broad-based gait 32 HP:0002136
24 tics 32 HP:0100033
25 progressive microcephaly 32 HP:0000253
26 happy demeanor 32 HP:0040082

Drugs & Therapeutics for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features

Genetic Tests for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal...

Anatomical Context for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features:

41
Tongue

Publications for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal...

Variations for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZSWIM6 NM_020928.1(ZSWIM6): c.2737C> T (p.Arg913Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 61541917: 61541917
2 ZSWIM6 NM_020928.1(ZSWIM6): c.2737C> T (p.Arg913Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 60837744: 60837744

Expression for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features.

Pathways for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal...

GO Terms for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal...

Sources for Neurodevelopmental Disorder with Movement Abnormalities, Abnormal...

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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