NEDFACH
MCID: NRD123
MIFTS: 13

Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia (NEDFACH)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar...

MalaCards integrated aliases for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia:

Name: Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia 57
Nedfach 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
three patients from 2 unrelated families have been reported (last curated april 2021)


Classifications:



External Ids:

OMIM® 57 619306

Summaries for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar...

OMIM® : 57 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. The phenotype is variable: more severely affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech, whereas others may achieve more significant developmental milestones and even attend special schooling. Brain imaging shows abnormalities of the cerebellum, most commonly cerebellar hypoplasia, although other features, such as thin corpus callosum and delayed myelination, may also be present. Dysmorphic facial features include sloping forehead, upslanting palpebral fissures, and hypertelorism. Additional more variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures (summary by Van Bergen et al., 2020). (619306) (Updated 20-May-2021)

MalaCards based summary : Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia, is also known as nedfach. An important gene associated with Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia is EXOC2 (Exocyst Complex Component 2). Affiliated tissues include cerebellum, testes and brain.

Related Diseases for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar...

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis

Head And Neck Eyes:
hypertelorism
upslanting palpebral fissures
cataracts (1 patient)
hypoplastic optic discs (1 patient)

Head And Neck Ears:
low-set ears

Abdomen Gastrointestinal:
feeding difficulties

Skeletal Hands:
camptodactyly
clenched hands

Skeletal Limbs:
joint contractures

Genitourinary External Genitalia Male:
undescended testes

Head And Neck Head:
microcephaly, postnatal (in some patients)

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Skeletal Pelvis:
hip dysplasia

Head And Neck Face:
long philtrum
sloping forehead
flat philtrum
dysmorphic facial features

Neurologic Central Nervous System:
cerebellar vermis hypoplasia
delayed myelination
rhombencephalosynapsis
delayed walking
spastic quadriplegia
more
Head And Neck Mouth:
thin upper lip

Growth Other:
poor overall growth

Cardiovascular Heart:
ventricular septal defect (1 patient)

Clinical features from OMIM®:

619306 (Updated 20-May-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia

Genetic Tests for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar...

Anatomical Context for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia:

40
Cerebellum, Testes, Brain

Publications for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar...

Articles related to Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia:

# Title Authors PMID Year
1
Mutations in the exocyst component EXOC2 cause severe defects in human brain development. 57
32639540 2020

Variations for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar...

Expression for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia.

Pathways for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar...

GO Terms for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar...

Sources for Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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