NEDDFAS
MCID: NRD121
MIFTS: 14

Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures (NEDDFAS)

Categories: Genetic diseases, Neuronal diseases

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

MalaCards integrated aliases for Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures:

Name: Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures 57 6
Neddfas 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
nonprogressive
onset in infancy or early childhood

Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM® 57 619264

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

OMIM® : 57 Neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS) is an autosomal recessive disorder characterized by global developmental delay apparent in early childhood. Patients have mildly impaired intellectual development, often with speech delay or behavioral abnormalities. Some may have seizures. Most have nonspecific dysmorphic facial features. Additional findings may include brain imaging abnormalities, mild skeletal defects, and renal abnormalities, although the renal anomalies may be unrelated (summary by Shao et al., 2021). (619264) (Updated 20-May-2021)

MalaCards based summary : Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures, is also known as neddfas. An important gene associated with Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures is EMC10 (ER Membrane Protein Complex Subunit 10). Affiliated tissues include eye and brain.

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

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
eye blinking

Skeletal Limbs:
cubitus valgus

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Face:
long face
pointed chin

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
poor social skills

Growth Other:
failure to thrive (in some patients)

Neurologic Central Nervous System:
global developmental delay
seizures (in some patients)
speech delay
impaired intellectual development
abnormal brain imaging, nonspecific (in some patients)

Skeletal Hands:
arachnodactyly
fifth finger clinodactyly

Genitourinary Kidneys:
hydronephrosis
medullary nephrocalcinosis
polyuria
renal cysts
renal abnormalities (in some patients)
more
Skin Nails Hair Hair:
hirsutism
curly hair

Head And Neck Teeth:
crowded teeth

Clinical features from OMIM®:

619264 (Updated 20-May-2021)

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

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures

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

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

MalaCards organs/tissues related to Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures:

40
Eye, Brain

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

Articles related to Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures:

# Title Authors PMID Year
1
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. 6 57
33531666 2021
2
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay. 6 57
32869858 2020

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

ClinVar genetic disease variations for Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EMC10 NM_206538.4(EMC10):c.679-1G>A SNV Pathogenic 1064428 GRCh37: 19:50985405-50985405
GRCh38: 19:50482148-50482148
2 EMC10 NM_206538.4(EMC10):c.287del (p.Gly96fs) Deletion Pathogenic 988592 GRCh37: 19:50982310-50982310
GRCh38: 19:50479053-50479053

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

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures.

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

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

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

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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