NEDMAGA
MCID: NRD044
MIFTS: 21

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 72 36 29 6
Nedmaga 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



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

UniProtKB/Swiss-Prot : 72 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 abnormal foot morphology

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) (Updated 20-May-2021)

KEGG : 36 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (NEDMAGA) is an autosomal dominant disorder caused by a recurrent de novo nonsense variant in ZSWIM6. Patients have severe-profound intellectual disability and additional central and peripheral nervous system symptoms but an absence of frontonasal or limb malformations.

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

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

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

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 very rare (1%) HP:0000256
2 abnormal foot morphology 31 very rare (1%) HP:0001760
3 intellectual disability 31 HP:0001249
4 failure to thrive 31 HP:0001508
5 constipation 31 HP:0002019
6 global developmental delay 31 HP:0001263
7 depressed nasal bridge 31 HP:0005280
8 prominent supraorbital ridges 31 HP:0000336
9 widely spaced teeth 31 HP:0000687
10 short nose 31 HP:0003196
11 thick eyebrow 31 HP:0000574
12 hypertonia 31 HP:0001276
13 gastroesophageal reflux 31 HP:0002020
14 prominent forehead 31 HP:0011220
15 everted lower lip vermilion 31 HP:0000232
16 absent speech 31 HP:0001344
17 open mouth 31 HP:0000194
18 downturned corners of mouth 31 HP:0002714
19 hyporeflexia 31 HP:0001265
20 broad-based gait 31 HP:0002136
21 feeding difficulties 31 HP:0011968
22 broad columella 31 HP:0010761
23 hyperactivity 31 HP:0000752
24 generalized hypotonia 31 HP:0001290
25 unsteady gait 31 HP:0002317
26 esotropia 31 HP:0000565
27 tics 31 HP:0100033
28 progressive microcephaly 31 HP:0000253
29 happy demeanor 31 HP:0040082
30 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Neurologic Central Nervous System:
global developmental delay
broad-based gait
unsteady gait
high pain threshold
loss of ambulation
more
Head And Neck Face:
prominent supraorbital ridges
prominent forehead
coarse features (in some patients)
no evidence of frontonasal dysostosis

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 Nose:
depressed nasal bridge
short nose
broad columella
blunt nasal tip

Head And Neck Teeth:
widely spaced teeth

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)
reduced density and thickness of myelin fibers seen on sural nerve biopsy
abnormal accumulation of neurofilaments

Skeletal Feet:
foot deformities (in some patients)

Clinical features from OMIM®:

617865 (Updated 20-May-2021)

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...

Genetic tests related to Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features 29 ZSWIM6

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

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

40
Tongue

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

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

# Title Authors PMID Year
1
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. 57 6
29198722 2017
2
Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulation. 57
28433741 2017

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 Name Type Significance ClinVarId dbSNP ID Position
1 ZSWIM6 NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter) SNV Pathogenic 431797 rs1554041295 GRCh37: 5:60837744-60837744
GRCh38: 5:61541917-61541917
2 ZSWIM6 NM_020928.2(ZSWIM6):c.2881A>G (p.Ser961Gly) SNV Uncertain significance 638342 rs745988643 GRCh37: 5:60839377-60839377
GRCh38: 5:61543550-61543550
3 ZSWIM6 NM_020928.2(ZSWIM6):c.407G>T (p.Gly136Val) SNV Uncertain significance 810782 rs754658198 GRCh37: 5:60628506-60628506
GRCh38: 5:61332679-61332679
4 ZSWIM6 NM_020928.2(ZSWIM6):c.3230C>T (p.Ala1077Val) SNV Uncertain significance 778321 rs896504353 GRCh37: 5:60839726-60839726
GRCh38: 5:61543899-61543899
5 ZSWIM6 NM_020928.2(ZSWIM6):c.1337C>T (p.Ala446Val) SNV Uncertain significance 982982 GRCh37: 5:60817093-60817093
GRCh38: 5:61521266-61521266

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 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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