NEDMHM
MCID: NRD025
MIFTS: 18

Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations (NEDMHM)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Midbrain and Hindbrain...

MalaCards integrated aliases for Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations:

Name: Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 58 12 76 6
Nedmhm 58 12 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable dysmorphic features
two brothers, born of consanguineous turkish parents, have been reported (last curated june 2017)


Classifications:



Summaries for Neurodevelopmental Disorder with Midbrain and Hindbrain...

Disease Ontology : 12 A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has material basis in homozygous mutation in ARHGEF2 on chromosome 1q22.

MalaCards based summary : Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations, is also known as nedmhm. An important gene associated with Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations is ARHGEF2 (Rho/Rac Guanine Nucleotide Exchange Factor 2). Affiliated tissues include pons and brain, and related phenotypes are high palate and ptosis

UniProtKB/Swiss-Prot : 76 Neurodevelopmental disorder with midbrain and hindbrain malformations: An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, speech delay, mild microcephaly, midbrain- hindbrain malformations, and variable dysmorphic features.

Description from OMIM: 617523

Related Diseases for Neurodevelopmental Disorder with Midbrain and Hindbrain...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Midbrain and Hindbrain...

Human phenotypes related to Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 high palate 33 HP:0000218
2 ptosis 33 HP:0000508
3 nystagmus 33 HP:0000639
4 intellectual disability 33 HP:0001249
5 abnormality of visual evoked potentials 33 HP:0000649
6 strabismus 33 HP:0000486
7 motor delay 33 HP:0001270
8 downslanted palpebral fissures 33 HP:0000494
9 thin upper lip vermilion 33 HP:0000219
10 amblyopia 33 HP:0000646
11 optic disc pallor 33 HP:0000543
12 long eyelashes 33 HP:0000527
13 astigmatism 33 HP:0000483
14 frequent falls 33 HP:0002359
15 hypoplasia of the pons 33 HP:0012110

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
nystagmus
strabismus
amblyopia
optic disc pallor
more
Head And Neck Face:
long philtrum

Muscle Soft Tissue:
hypotonia

Chest Breasts:
widely spaced nipples

Neurologic Central Nervous System:
intellectual disability
frequent falls
pontine hypoplasia
delayed motor development, mild
poor fine motor skills
more
Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Mouth:
high-arched palate
thin upper lip

Head And Neck Head:
microcephaly, mild

Clinical features from OMIM:

617523

Drugs & Therapeutics for Neurodevelopmental Disorder with Midbrain and Hindbrain...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations

Genetic Tests for Neurodevelopmental Disorder with Midbrain and Hindbrain...

Anatomical Context for Neurodevelopmental Disorder with Midbrain and Hindbrain...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations:

42
Pons, Brain

Publications for Neurodevelopmental Disorder with Midbrain and Hindbrain...

Articles related to Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations:

# Title Authors Year
1
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. ( 28453519 )
2017

Variations for Neurodevelopmental Disorder with Midbrain and Hindbrain...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARHGEF2 NM_004723.3(ARHGEF2): c.1461delG (p.Asp488Thrfs) deletion Pathogenic rs1114167454 GRCh37 Chromosome 1, 155928111: 155928111
2 ARHGEF2 NM_004723.3(ARHGEF2): c.1461delG (p.Asp488Thrfs) deletion Pathogenic rs1114167454 GRCh38 Chromosome 1, 155958320: 155958320

Expression for Neurodevelopmental Disorder with Midbrain and Hindbrain...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations.

Pathways for Neurodevelopmental Disorder with Midbrain and Hindbrain...

GO Terms for Neurodevelopmental Disorder with Midbrain and Hindbrain...

Sources for Neurodevelopmental Disorder with Midbrain and Hindbrain...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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