NEDHIB
MCID: NRD080
MIFTS: 17

Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities (NEDHIB)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Hypotonia and Variable...

MalaCards integrated aliases for Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities:

Name: Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities 56 73 6
Nedhib 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation
highly variable severity


Classifications:



External Ids:

OMIM 56 618603
MeSH 43 D065886
MedGen 41 CN262335

Summaries for Neurodevelopmental Disorder with Hypotonia and Variable...

OMIM : 56 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Additional features may include feeding difficulties, dysmorphic features, and visual defects. Brain imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles. The severity of the disorder is highly variable; initial evidence suggests that the severity may depend on the type of mutation (summary by Haijes et al., 2019). (618603)

MalaCards based summary : Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities, is also known as nedhib. An important gene associated with Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities is POLR2A (RNA Polymerase II Subunit A). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities: An autosomal dominant neurodevelopmental disorder characterized by profound infantile-onset hypotonia, developmental delay with poor speech, delayed walking, and impaired intellectual development. Additional variable features include feeding difficulties, dysmorphic features, and visual defects.

Related Diseases for Neurodevelopmental Disorder with Hypotonia and Variable...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Hypotonia and Variable...

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
impaired visual development

Growth Other:
failure to thrive

Muscle Soft Tissue:
inguinal hernia
hypotonia
muscle atrophy
decreased endurance

Respiratory:
recurrent respiratory infections

Skeletal Skull:
brachycephaly
plagiocephaly

Head And Neck Mouth:
high-arched palate

Skeletal Hands:
tapering fingers

Head And Neck Teeth:
misaligned teeth

Chest External Features:
pectus excavatum

Abdomen Gastrointestinal:
dysphagia
feeding difficulties
gastroesophageal reflux
tube feeding

Neurologic Central Nervous System:
global developmental delay
inability to walk
sleep disturbances
enlarged ventricles
seizures (uncommon)
more
Head And Neck Head:
microcephaly

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
short attention span
abnormal behavior
autistic features
poor social interaction

Skeletal:
hyperextensible joints

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Face:
dysmorphic features, variable (in some patients)

Clinical features from OMIM:

618603

Drugs & Therapeutics for Neurodevelopmental Disorder with Hypotonia and Variable...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities

Genetic Tests for Neurodevelopmental Disorder with Hypotonia and Variable...

Anatomical Context for Neurodevelopmental Disorder with Hypotonia and Variable...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities:

40
Brain

Publications for Neurodevelopmental Disorder with Hypotonia and Variable...

Articles related to Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities:

# Title Authors PMID Year
1
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. 56 6
31353023 2019

Variations for Neurodevelopmental Disorder with Hypotonia and Variable...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLR2A NM_000937.5(POLR2A):c.1370T>C (p.Ile457Thr)SNV Pathogenic 691497 17:7402392-7402392 17:7499073-7499073
2 POLR2A NM_000937.5(POLR2A):c.2098C>T (p.Gln700Ter)SNV Pathogenic 691498 17:7404655-7404655 17:7501336-7501336
3 POLR2A NM_000937.5(POLR2A):c.2203C>T (p.Gln735Ter)SNV Pathogenic 691499 17:7404902-7404902 17:7501583-7501583
4 POLR2A NM_000937.5(POLR2A):c.2207C>T (p.Thr736Met)SNV Pathogenic 691500 17:7404906-7404906 17:7501587-7501587
5 POLR2A NM_000937.5(POLR2A):c.3371T>C (p.Leu1124Pro)SNV Pathogenic 691501 17:7411700-7411700 17:7508381-7508381

Expression for Neurodevelopmental Disorder with Hypotonia and Variable...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities.

Pathways for Neurodevelopmental Disorder with Hypotonia and Variable...

GO Terms for Neurodevelopmental Disorder with Hypotonia and Variable...

Sources for Neurodevelopmental Disorder with Hypotonia and Variable...

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
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39 LOVD
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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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