NEDSSWI
MCID: NRD069
MIFTS: 17

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 6
Nedsswi 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


Classifications:



External Ids:

OMIM 57 618480

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)

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 brain and eye, and related phenotype is renal/urinary system.

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Abdomen Gastrointestinal:
constipation

Head And Neck Nose:
prominent nasal bridge

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

Neurologic Central Nervous System:
seizures
spasticity
global developmental delay
unsteady gait
high pain threshold
more
Skin Nails Hair Skin:
sacral dimple

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 (i family)

Clinical features from OMIM:

618480

MGI Mouse Phenotypes related to Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.62 DHPS WDR83

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...

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:

41
Brain, Eye

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. 8 71
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DHPS NM_001930.4(DHPS): c.1014+1G> A single nucleotide variant Uncertain significance rs142633494 19:12786830-12786830 19:12676016-12676016
2 DHPS NM_013406.2(DHPS): c.785-14_785-9del deletion Uncertain significance 19:12786928-12786933 19:12676114-12676119
3 DHPS NM_001930.4(DHPS): c.518A> G (p.Asn173Ser) single nucleotide variant Uncertain significance rs758100382 19:12790510-12790510 19:12679696-12679696
4 DHPS NM_001930.4(DHPS): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance 19:12792580-12792580 19:12681766-12681766

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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