NEDMILG
MCID: NRD112
MIFTS: 19

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

Categories: Genetic diseases, Neuronal diseases

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

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

Name: Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities 57 6
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities, Autosomal Recessive 57
Nedmilg 57

Characteristics:

OMIM®:

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

Miscellaneous:
variable phenotype
onset in infancy
progressive or neurodegenerative disorder


HPO:

31
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



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

OMIM® : 57 Neurodevelopmental disorder with microcephaly, language delay, and gait abnormalities (NEDMILG) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems (Manole et al., 2020). (619091) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities, is also known as neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Impaired Language, 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, and Gait Abnormalities:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 hyperreflexia 31 very rare (1%) HP:0001347
3 scoliosis 31 very rare (1%) HP:0002650
4 global developmental delay 31 very rare (1%) HP:0001263
5 delayed speech and language development 31 very rare (1%) HP:0000750
6 microcephaly 31 very rare (1%) HP:0000252
7 hypertonia 31 very rare (1%) HP:0001276
8 flexion contracture 31 very rare (1%) HP:0001371
9 hyporeflexia 31 very rare (1%) HP:0001265
10 hypotelorism 31 very rare (1%) HP:0000601
11 pachygyria 31 very rare (1%) HP:0001302
12 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
13 generalized hypotonia 31 very rare (1%) HP:0001290
14 focal-onset seizure 31 very rare (1%) HP:0007359
15 clinodactyly 31 very rare (1%) HP:0030084
16 cerebral white matter hypoplasia 31 very rare (1%) HP:0012430
17 arachnoid cyst 31 very rare (1%) HP:0100702
18 syndactyly 31 very rare (1%) HP:0001159
19 delayed cns myelination 31 very rare (1%) HP:0002188
20 impaired tactile sensation 31 very rare (1%) HP:0010830
21 delayed ability to sit 31 very rare (1%) HP:0025336
22 delayed ability to walk 31 very rare (1%) HP:0031936
23 myoclonic seizure 31 very rare (1%) HP:0032794
24 bilateral tonic-clonic seizure with generalized onset 31 very rare (1%) HP:0025190

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus

Skeletal Hands:
clinodactyly

Muscle Soft Tissue:
distal muscle weakness and atrophy
decreased muscle power

Neurologic Central Nervous System:
absent speech
broad-based gait
cerebral atrophy
unsteady gait
delayed myelination
more
Neurologic Peripheral Nervous System:
hyporeflexia
impaired distal sensation
demyelinating sensorimotor neuropathy

Skeletal Limbs:
contractures

Head And Neck Head:
microcephaly, progressive (range -2.0 to -8.7 sd)

Clinical features from OMIM®:

619091 (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, 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, and Gait Abnormalities:

40
Brain

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

Articles related to Neurodevelopmental Disorder with Microcephaly, Impaired Language, 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
2
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. 57 6
32788587 2020

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NARS1 NM_004539.4(NARS1):c.203dup (p.Met69fs) Duplication Pathogenic 986303 18:55283097-55283098 18:57615865-57615866
2 NARS1 NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) SNV Pathogenic 983068 18:55273918-55273918 18:57606686-57606686
3 NARS1 NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys) SNV Pathogenic 986305 18:55268898-55268898 18:57601666-57601666
4 NARS1 NM_004539.4(NARS1):c.32G>C (p.Arg11Pro) SNV Pathogenic 986306 18:55287862-55287862 18:57620630-57620630
5 NARS1 NM_004539.4(NARS1):c.50C>T (p.Thr17Met) SNV Pathogenic 986308 18:55287844-55287844 18:57620612-57620612

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

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Impaired Language, 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
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