NEDMS
MCID: NRD087
MIFTS: 14

Neurodevelopmental Disorder with Macrocephaly and with or Without Seizures (NEDMS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Macrocephaly and with or Without...

MalaCards integrated aliases for Neurodevelopmental Disorder with Macrocephaly and with or Without Seizures:

Name: Neurodevelopmental Disorder with Macrocephaly and with or Without Seizures 56 6
Neurodevelopmental Disorder with Macrocephaly and Seizures 56
Nedms 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
variable presentation of dysmorphic and behavioral features


Classifications:



External Ids:

OMIM 56 618725

Summaries for Neurodevelopmental Disorder with Macrocephaly and with or Without...

OMIM : 56 Patients with neurodevelopmental disorder with macrocephaly and with or without seizures (NEDMS) have impaired intellectual development or developmental delay of varying severity with impaired motor skills and language delay. Macrocephaly, obesity, overgrowth, and craniofacial dysmorphism are frequently seen. Approximately half of patients experience seizures, and neurobehavioral disorders including autism are usually present (Hamanaka et al., 2019; Kim et al., 2019). (618725)

MalaCards based summary : Neurodevelopmental Disorder with Macrocephaly and with or Without Seizures, is also known as neurodevelopmental disorder with macrocephaly and seizures. An important gene associated with Neurodevelopmental Disorder with Macrocephaly and with or Without Seizures is PHF21A (PHD Finger Protein 21A).

Related Diseases for Neurodevelopmental Disorder with Macrocephaly and with or Without...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Macrocephaly and with or Without...

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
developmental delay
language delay
epilepsy (in some patients)
hypotonia (in some patients)
more
Head And Neck Head:
macrocephaly (in some patients)

Growth Other:
macrosomia (at birth) obesity (in some patients)

Skeletal Feet:
toe syndactyly (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autism
anxiety
attention deficit hyperactivity disorder (adhd)
neurobehavioral problems

Skeletal Hands:
tapering fingers (in some patients)
clinodactyly (in some patients)

Head And Neck Face:
dysmorphic features (variable and non-specific)

Clinical features from OMIM:

618725

Drugs & Therapeutics for Neurodevelopmental Disorder with Macrocephaly and with or Without...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Macrocephaly and with or Without Seizures

Genetic Tests for Neurodevelopmental Disorder with Macrocephaly and with or Without...

Anatomical Context for Neurodevelopmental Disorder with Macrocephaly and with or Without...

Publications for Neurodevelopmental Disorder with Macrocephaly and with or Without...

Articles related to Neurodevelopmental Disorder with Macrocephaly and with or Without Seizures:

# Title Authors PMID Year
1
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. 56 6
30487643 2019
2
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. 56 6
31649809 2019

Variations for Neurodevelopmental Disorder with Macrocephaly and with or Without...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Macrocephaly and with or Without Seizures:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PHF21A NM_016621.4(PHF21A):c.1223dup (p.Glu409fs)duplication Pathogenic 800732 11:45970956-45970957 11:45949405-45949406
2 PHF21A NM_016621.4(PHF21A):c.660_661insAA (p.Pro221fs)insertion Pathogenic 800733 11:45991407-45991408 11:45969856-45969857
3 PHF21A NM_016621.4(PHF21A):c.1288G>A (p.Ala430Thr)SNV Pathogenic 800735 11:45970437-45970437 11:45948886-45948886
4 PHF21A NM_001101802.2(PHF21A):c.1738C>T (p.Arg580Ter)SNV Uncertain significance 620028 rs1565138763 11:45957234-45957234 11:45935683-45935683

Expression for Neurodevelopmental Disorder with Macrocephaly and with or Without...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Macrocephaly and with or Without Seizures.

Pathways for Neurodevelopmental Disorder with Macrocephaly and with or Without...

GO Terms for Neurodevelopmental Disorder with Macrocephaly and with or Without...

Sources for Neurodevelopmental Disorder with Macrocephaly and with or Without...

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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