NEDSSWI
MCID: NRD069
MIFTS: 22

Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment (NEDSSWI)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Seizures and Speech and Walking...

MalaCards integrated aliases for Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment:

Name: Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 57 73 29 6
Nedsswi 57 73

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy


HPO:

31
neurodevelopmental disorder with seizures and speech and walking impairment:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Neurodevelopmental Disorder with Seizures and Speech and Walking...

OMIM® : 57 Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI) is an autosomal recessive disorder with onset in infancy. Patients show global developmental delay, particularly of speech acquisition, as well as walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Other features include seizures, mild dysmorphic features, and variable short stature. The pregnancies tend to be complicated by hyper- or hypotension (summary by Ganapathi et al., 2019). (618480) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment, is also known as nedsswi. An important gene associated with Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment is DHPS (Deoxyhypusine Synthase). Affiliated tissues include eye and brain, and related phenotypes are short stature and premature birth

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with seizures and speech and walking impairment: An autosomal recessive disorder characterized by global developmental delay with intellectual disability and poor speech acquisition, and walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Additional features include seizures, mild dysmorphic features, and variable short stature.

Related Diseases for Neurodevelopmental Disorder with Seizures and Speech and Walking...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Seizures and Speech and Walking...

Human phenotypes related to Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 short stature 31 very rare (1%) HP:0004322
2 premature birth 31 very rare (1%) HP:0001622
3 spasticity 31 HP:0001257
4 eeg abnormality 31 HP:0002353
5 constipation 31 HP:0002019
6 hypotension 31 HP:0002615
7 high palate 31 HP:0000218
8 global developmental delay 31 HP:0001263
9 abnormal facial shape 31 HP:0001999
10 low-set ears 31 HP:0000369
11 clinodactyly of the 5th finger 31 HP:0004209
12 deeply set eye 31 HP:0000490
13 prominent nasal bridge 31 HP:0000426
14 sacral dimple 31 HP:0000960
15 oligohydramnios 31 HP:0001562
16 unsteady gait 31 HP:0002317
17 muscular hypotonia of the trunk 31 HP:0008936
18 preeclampsia 31 HP:0100602
19 limb hypertonia 31 HP:0002509
20 delayed ability to walk 31 HP:0031936
21 seizure 31 HP:0001250
22 pica 31 HP:0011856

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
global developmental delay
unsteady gait
high pain threshold
more
Head And Neck Ears:
low-set ears

Skin Nails Hair Skin:
sacral dimple

Muscle Soft Tissue:
limb hypertonia
axial hypotonia

Prenatal Manifestations Maternal:
low blood pressure
hellp syndrome
pregnancy-induced hypertension
pre-eclampsia

Head And Neck Mouth:
high-arched palate

Growth Height:
short stature (in some patients)

Head And Neck Face:
dysmorphic facial features, mild, variable

Abdomen Gastrointestinal:
constipation

Head And Neck Nose:
prominent nasal bridge

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Neurologic Behavioral Psychiatric Manifestations:
pica
hand-flapping

Skeletal Hands:
fifth finger clinodactyly

Head And Neck Eyes:
deep-set eyes
medial eyebrow flare
prominent infraorbital creases

Prenatal Manifestations Delivery:
premature delivery (in some patients)

Immunology:
low iga (1 family)
low igg (1 family)

Clinical features from OMIM®:

618480 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Seizures and Speech and Walking...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment

Genetic Tests for Neurodevelopmental Disorder with Seizures and Speech and Walking...

Genetic tests related to Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 29 DHPS

Anatomical Context for Neurodevelopmental Disorder with Seizures and Speech and Walking...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment:

40
Eye, Brain

Publications for Neurodevelopmental Disorder with Seizures and Speech and Walking...

Articles related to Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment:

# Title Authors PMID Year
1
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. 6 57
30661771 2019

Variations for Neurodevelopmental Disorder with Seizures and Speech and Walking...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DHPS NM_001930.4(DHPS):c.1014+1G>A SNV Pathogenic 560196 rs142633494 19:12786830-12786830 19:12676016-12676016
2 LOC112543448 NM_001930.4(DHPS):c.1A>G (p.Met1Val) SNV Pathogenic 560197 rs1306390986 19:12792580-12792580 19:12681766-12681766
3 DHPS NM_001930.4(DHPS):c.518A>G (p.Asn173Ser) SNV Likely pathogenic 560194 rs758100382 19:12790510-12790510 19:12679696-12679696
4 DHPS NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del) Deletion Likely pathogenic 560195 rs1568317152 19:12786928-12786933 19:12676114-12676119

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment:

73
# Symbol AA change Variation ID SNP ID
1 DHPS p.Asn173Ser VAR_082649 rs758100382

Expression for Neurodevelopmental Disorder with Seizures and Speech and Walking...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment.

Pathways for Neurodevelopmental Disorder with Seizures and Speech and Walking...

GO Terms for Neurodevelopmental Disorder with Seizures and Speech and Walking...

Sources for Neurodevelopmental Disorder with Seizures and Speech and Walking...

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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