NEDMILEG
MCID: NRD113
MIFTS: 17

Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities (NEDMILEG)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly, Impaired Language,...

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities:

Name: Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities 57 6
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities, Autosomal Dominant 57
Nedmileg 57

Characteristics:

HPO:

31
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Microcephaly, Impaired Language,...

OMIM® : 57 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG) is characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems (Manole et al., 2020). (619092) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities, is also known as neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities is NARS1 (Asparaginyl-TRNA Synthetase 1). Affiliated tissues include brain, and related phenotypes are intellectual disability and hyperreflexia

Related Diseases for Neurodevelopmental Disorder with Microcephaly, Impaired Language,...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Microcephaly, Impaired Language,...

Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 hyperreflexia 31 very rare (1%) HP:0001347
3 tremor 31 very rare (1%) HP:0001337
4 global developmental delay 31 very rare (1%) HP:0001263
5 hypertelorism 31 very rare (1%) HP:0000316
6 widely spaced teeth 31 very rare (1%) HP:0000687
7 delayed speech and language development 31 very rare (1%) HP:0000750
8 microcephaly 31 very rare (1%) HP:0000252
9 hypertonia 31 very rare (1%) HP:0001276
10 stereotypy 31 very rare (1%) HP:0000733
11 myoclonus 31 very rare (1%) HP:0001336
12 retrognathia 31 very rare (1%) HP:0000278
13 low-set ears 31 very rare (1%) HP:0000369
14 pectus excavatum 31 very rare (1%) HP:0000767
15 arachnodactyly 31 very rare (1%) HP:0001166
16 upslanted palpebral fissure 31 very rare (1%) HP:0000582
17 overfolded helix 31 very rare (1%) HP:0000396
18 broad forehead 31 very rare (1%) HP:0000337
19 pes cavus 31 very rare (1%) HP:0001761
20 hyporeflexia 31 very rare (1%) HP:0001265
21 gait ataxia 31 very rare (1%) HP:0002066
22 generalized hypotonia 31 very rare (1%) HP:0001290
23 focal-onset seizure 31 very rare (1%) HP:0007359
24 brain atrophy 31 very rare (1%) HP:0012444
25 clinodactyly 31 very rare (1%) HP:0030084
26 syndactyly 31 very rare (1%) HP:0001159
27 thoracic kyphosis 31 very rare (1%) HP:0002942
28 large fleshy ears 31 very rare (1%) HP:0002265
29 impaired tactile sensation 31 very rare (1%) HP:0010830
30 delayed ability to sit 31 very rare (1%) HP:0025336
31 delayed ability to walk 31 very rare (1%) HP:0031936
32 widened cerebral subarachnoid space 31 very rare (1%) HP:0012766
33 myoclonic seizure 31 very rare (1%) HP:0032794
34 bilateral tonic-clonic seizure with generalized onset 31 very rare (1%) HP:0025190

Clinical features from OMIM®:

619092 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Microcephaly, Impaired Language,...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities

Genetic Tests for Neurodevelopmental Disorder with Microcephaly, Impaired Language,...

Anatomical Context for Neurodevelopmental Disorder with Microcephaly, Impaired Language,...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities:

40
Brain

Publications for Neurodevelopmental Disorder with Microcephaly, Impaired Language,...

Articles related to Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities:

# Title Authors PMID Year
1
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. 57 6
32738225 2020

Variations for Neurodevelopmental Disorder with Microcephaly, Impaired Language,...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NARS1 NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter) SNV Pathogenic 982711 18:55268931-55268931 18:57601699-57601699

Expression for Neurodevelopmental Disorder with Microcephaly, Impaired Language,...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities.

Pathways for Neurodevelopmental Disorder with Microcephaly, Impaired Language,...

GO Terms for Neurodevelopmental Disorder with Microcephaly, Impaired Language,...

Sources for Neurodevelopmental Disorder with Microcephaly, Impaired Language,...

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
Content
Loading form....