NEDMHM
MCID: NRD025
MIFTS: 19

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 56 12 73 6
Nedmhm 56 12 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
neurodevelopmental disorder with midbrain and hindbrain malformations:
Inheritance autosomal recessive inheritance


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 : 73 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.

More information 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:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 ptosis 31 HP:0000508
3 nystagmus 31 HP:0000639
4 intellectual disability 31 HP:0001249
5 downslanted palpebral fissures 31 HP:0000494
6 microcephaly 31 HP:0000252
7 abnormality of visual evoked potentials 31 HP:0000649
8 long philtrum 31 HP:0000343
9 generalized hypotonia 31 HP:0001290
10 strabismus 31 HP:0000486
11 wide intermamillary distance 31 HP:0006610
12 motor delay 31 HP:0001270
13 thin upper lip vermilion 31 HP:0000219
14 hypoplasia of the pons 31 HP:0012110
15 amblyopia 31 HP:0000646
16 hyporeflexia 31 HP:0001265
17 optic disc pallor 31 HP:0000543
18 long eyelashes 31 HP:0000527
19 astigmatism 31 HP:0000483
20 frequent falls 31 HP:0002359

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
ptosis
nystagmus
strabismus
amblyopia
optic disc pallor
more
Head And Neck Face:
long philtrum

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

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

Muscle Soft Tissue:
hypotonia

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:

40
Pons, Brain

Publications for Neurodevelopmental Disorder with Midbrain and Hindbrain...

Articles related to Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations:

# Title Authors PMID Year
1
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. 56 6
28453519 2017

Variations for Neurodevelopmental Disorder with Midbrain and Hindbrain...

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARHGEF2 NM_001162383.2(ARHGEF2):c.1545+1deldeletion Pathogenic 427795 rs1114167454 1:155928111-155928111 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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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