NEDSID
MCID: NRD109
MIFTS: 21

Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies (NEDSID)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic...

MalaCards integrated aliases for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies:

Name: Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies 57 6
Nedsid 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in infancy or early childhood
variable features and severity


HPO:

31
neurodevelopmental disorder with speech impairment and dysmorphic facies:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset childhood onset


Classifications:



Summaries for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic...

OMIM® : 57 Neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) is characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition. Additional features include dysmorphic facies, distal limb anomalies, gastrointestinal problems or feeding difficulties, and hypotonia. The phenotypic features and severity of the disorder are variable (summary by Kummeling et al., 2020). (619056) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies, is also known as nedsid. An important gene associated with Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies is SETD1A (SET Domain Containing 1A, Histone Lysine Methyltransferase). Affiliated tissues include brain and eye, and related phenotypes are macrocephaly and intellectual disability

Related Diseases for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic...

Human phenotypes related to Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies:

31 (show all 36)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 very rare (1%) HP:0000256
2 intellectual disability 31 very rare (1%) HP:0001249
3 sleep disturbance 31 very rare (1%) HP:0002360
4 hearing impairment 31 very rare (1%) HP:0000365
5 global developmental delay 31 very rare (1%) HP:0001263
6 hypertelorism 31 very rare (1%) HP:0000316
7 widely spaced teeth 31 very rare (1%) HP:0000687
8 delayed speech and language development 31 very rare (1%) HP:0000750
9 microtia 31 very rare (1%) HP:0008551
10 anteverted nares 31 very rare (1%) HP:0000463
11 visual impairment 31 very rare (1%) HP:0000505
12 short stature 31 very rare (1%) HP:0004322
13 full cheeks 31 very rare (1%) HP:0000293
14 low-set ears 31 very rare (1%) HP:0000369
15 anxiety 31 very rare (1%) HP:0000739
16 obesity 31 very rare (1%) HP:0001513
17 epicanthus 31 very rare (1%) HP:0000286
18 motor delay 31 very rare (1%) HP:0001270
19 wide mouth 31 very rare (1%) HP:0000154
20 joint hypermobility 31 very rare (1%) HP:0001382
21 downslanted palpebral fissures 31 very rare (1%) HP:0000494
22 deeply set eye 31 very rare (1%) HP:0000490
23 schizophrenia 31 very rare (1%) HP:0100753
24 high forehead 31 very rare (1%) HP:0000348
25 craniosynostosis 31 very rare (1%) HP:0001363
26 everted upper lip vermilion 31 very rare (1%) HP:0010803
27 wide nose 31 very rare (1%) HP:0000445
28 oligohydramnios 31 very rare (1%) HP:0001562
29 feeding difficulties 31 very rare (1%) HP:0011968
30 recurrent infections 31 very rare (1%) HP:0002719
31 autistic behavior 31 very rare (1%) HP:0000729
32 aggressive behavior 31 very rare (1%) HP:0000718
33 generalized hypotonia 31 very rare (1%) HP:0001290
34 short attention span 31 very rare (1%) HP:0000736
35 chronic constipation 31 very rare (1%) HP:0012450
36 seizure 31 very rare (1%) HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
global developmental delay
motor delay
speech apraxia
hypotonia
seizures (in some patients)
more
Head And Neck Teeth:
widely spaced teeth

Head And Neck Ears:
microtia
low-set ears

Head And Neck Face:
full cheeks
high forehead

Head And Neck Mouth:
wide mouth
everted upper lip

Abdomen Gastrointestinal:
feeding difficulties

Immunology:
recurrent infections (in some patients)

Head And Neck Eyes:
hypertelorism
visual impairment
downslanting palpebral fissures
epicanthal folds
deep-set eyes

Skeletal Feet:
pes planus

Head And Neck Nose:
anteverted nares
wide nose
broad nasal tip

Neurologic Behavioral Psychiatric Manifestations:
anxiety
overfriendliness
aggressive behavior
short attention span
sleep disturbances
more
Skeletal:
joint hypermobility

Skeletal Hands:
long fingers
tapering fingers
broad fingers

Clinical features from OMIM®:

619056 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies

Genetic Tests for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic...

Anatomical Context for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies:

40
Brain, Eye

Publications for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic...

Articles related to Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies:

# Title Authors PMID Year
1
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. 57 6
32346159 2020
2
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. 57
29463886 2019
3
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. 57
26974950 2016
4
Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene. 57
24853937 2014
5
Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes. 57
25420024 2014

Variations for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SETD1A NM_014712.3(SETD1A):c.4495T>G (p.Tyr1499Asp) SNV Pathogenic 981933 16:30991892-30991892 16:30980571-30980571
2 SETD1A NM_014712.3(SETD1A):c.1602_1603del (p.Gly535fs) Deletion Pathogenic 981934 16:30976665-30976666 16:30965344-30965345
3 SETD1A NM_014712.3(SETD1A):c.1014dup (p.Ala339fs) Duplication Pathogenic 981935 16:30976075-30976076 16:30964754-30964755

Expression for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies.

Pathways for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic...

GO Terms for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic...

Sources for Neurodevelopmental Disorder with Speech Impairment and Dysmorphic...

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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