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 57 12 75 6
Nedmhm 57 12 75

Characteristics:

OMIM:

57
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 : 75 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...

Symptoms via clinical synopsis from OMIM:

57
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
poor fine motor skills
delayed motor development, mild
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

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

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 ptosis 32 HP:0000508
3 nystagmus 32 HP:0000639
4 intellectual disability 32 HP:0001249
5 abnormality of visual evoked potentials 32 HP:0000649
6 strabismus 32 HP:0000486
7 motor delay 32 HP:0001270
8 downslanted palpebral fissures 32 HP:0000494
9 thin upper lip vermilion 32 HP:0000219
10 amblyopia 32 HP:0000646
11 optic disc pallor 32 HP:0000543
12 long eyelashes 32 HP:0000527
13 astigmatism 32 HP:0000483
14 frequent falls 32 HP:0002359
15 hypoplasia of the pons 32 HP:0012110

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:

41
Pons, Brain

Publications for Neurodevelopmental Disorder with Midbrain and Hindbrain...

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 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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