NEDHYMS
MCID: NRD096
MIFTS: 22

Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures (NEDHYMS)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures:

Name: Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 57 73 6
Nedhyms 57 73

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
seizures are usually intractable
four unrelated patients have been reported (last curated april 2020)


HPO:

31
neurodevelopmental disorder with hypotonia, microcephaly, and seizures:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

OMIM® : 57 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) is an autosomal recessive disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language. Most patients develop early-onset intractable seizures that prevent normal development. Additional features include feeding difficulties with poor overall growth and microcephaly. Some patients may have spastic quadriplegia, poor eye contact due to cortical blindness, variable dysmorphic features, and nonspecific abnormalities on brain imaging (summary by Tan et al., 2020). (618862) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures, is also known as nedhyms. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures is ADARB1 (Adenosine Deaminase RNA Specific B1). Affiliated tissues include eye and skeletal muscle, and related phenotypes are intellectual disability and spasticity

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, impaired intellectual development with absent language, and early-onset intractable seizures in most patients. Additional features include poor overall growth, microcephaly, dysmorphic features, poor eye contact due to cortical blindness, and nonspecific brain abnormalities.

Related Diseases for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

Human phenotypes related to Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 spasticity 31 very rare (1%) HP:0001257
3 high palate 31 very rare (1%) HP:0000218
4 global developmental delay 31 very rare (1%) HP:0001263
5 microcephaly 31 very rare (1%) HP:0000252
6 short stature 31 very rare (1%) HP:0004322
7 brachycephaly 31 very rare (1%) HP:0000248
8 skeletal muscle atrophy 31 very rare (1%) HP:0003202
9 absent speech 31 very rare (1%) HP:0001344
10 upslanted palpebral fissure 31 very rare (1%) HP:0000582
11 polyhydramnios 31 very rare (1%) HP:0001561
12 laryngomalacia 31 very rare (1%) HP:0001601
13 thin upper lip vermilion 31 very rare (1%) HP:0000219
14 increased nuchal translucency 31 very rare (1%) HP:0010880
15 high anterior hairline 31 very rare (1%) HP:0009890
16 round face 31 very rare (1%) HP:0000311
17 plagiocephaly 31 very rare (1%) HP:0001357
18 prominent metopic ridge 31 very rare (1%) HP:0005487
19 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
20 feeding difficulties 31 very rare (1%) HP:0011968
21 generalized hypotonia 31 very rare (1%) HP:0001290
22 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
23 cerebral visual impairment 31 very rare (1%) HP:0100704
24 exotropia 31 very rare (1%) HP:0000577
25 temporal cortical atrophy 31 very rare (1%) HP:0007112
26 unilateral cryptorchidism 31 very rare (1%) HP:0012741
27 oval face 31 very rare (1%) HP:0000300
28 delayed cns myelination 31 very rare (1%) HP:0002188
29 delayed ability to walk 31 very rare (1%) HP:0031936
30 interictal epileptiform activity 31 very rare (1%) HP:0011182
31 seizure 31 very rare (1%) HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
global developmental delay
absent speech
developmental stagnation
status epilepticus
more
Head And Neck Head:
brachycephaly
plagiocephaly
microcephaly, progressive (down to -4.4 sd)

Head And Neck Eyes:
poor eye contact
upslanting palpebral fissures
cortical visual impairment

Head And Neck Mouth:
thin upper lip
high-arched palate

Growth Other:
failure to thrive
poor overall growth

Head And Neck Face:
round face
oval face
dysmorphic features (in some patients)

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Clinical features from OMIM®:

618862 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures

Genetic Tests for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

Anatomical Context for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures:

40
Eye, Skeletal Muscle

Publications for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

Articles related to Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures:

# Title Authors PMID Year
1
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. 6 57
32220291 2020
2
Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2. 57
10894545 2000

Variations for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADARB1 NM_001112.4(ADARB1):c.1101G>C (p.Lys367Asn) SNV Pathogenic 870449 21:46602522-46602522 21:45182607-45182607
2 ADARB1 NM_001112.4(ADARB1):c.1492A>G (p.Ser498Gly) SNV Pathogenic 870450 21:46604933-46604933 21:45185018-45185018
3 ADARB1 NM_001112.4(ADARB1):c.379A>G (p.Lys127Glu) SNV Pathogenic 870451 21:46595995-46595995 21:45176080-45176080
4 ADARB1 NM_001112.4(ADARB1):c.1688G>A (p.Arg563Gln) SNV Pathogenic 870452 21:46624592-46624592 21:45204677-45204677
5 ADARB1 NM_001112.4(ADARB1):c.2045C>T (p.Ala682Val) SNV Pathogenic 870453 21:46642051-46642051 21:45222136-45222136
6 ADARB1 NM_001112.4(ADARB1):c.1299dup (p.Phe434fs) Duplication Uncertain significance 983120 21:46603322-46603323 21:45183407-45183408

Expression for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures.

Pathways for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

GO Terms for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

Sources for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

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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