MCID: MCR299
MIFTS: 14

Microlissencephaly-Micromelia Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Microlissencephaly-Micromelia Syndrome

MalaCards integrated aliases for Microlissencephaly-Micromelia Syndrome:

Name: Microlissencephaly-Micromelia Syndrome 60
Basel-Vanagaite-Sirota Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
microlissencephaly-micromelia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Microlissencephaly-Micromelia Syndrome

MalaCards based summary : Microlissencephaly-Micromelia Syndrome, is also known as basel-vanagaite-sirota syndrome. Affiliated tissues include brain, and related phenotypes are short neck and seizures

Related Diseases for Microlissencephaly-Micromelia Syndrome

Symptoms & Phenotypes for Microlissencephaly-Micromelia Syndrome

Human phenotypes related to Microlissencephaly-Micromelia Syndrome:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
4 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
5 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
6 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
7 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
8 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
9 respiratory distress 60 33 hallmark (90%) Very frequent (99-80%) HP:0002098
10 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
11 palpebral edema 60 33 hallmark (90%) Very frequent (99-80%) HP:0100540
12 cerebellar hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001321
13 bilateral single transverse palmar creases 60 33 hallmark (90%) Very frequent (99-80%) HP:0007598
14 polyhydramnios 60 33 hallmark (90%) Very frequent (99-80%) HP:0001561
15 areflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001284
16 adducted thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0001181
17 lissencephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001339
18 postnatal microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0005484
19 11 pairs of ribs 60 33 hallmark (90%) Very frequent (99-80%) HP:0000878
20 fetal pyelectasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0010945
21 generalized hypertrichosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004554
22 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
23 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276
24 hypoparathyroidism 60 33 frequent (33%) Frequent (79-30%) HP:0000829
25 abnormality level of calcium-phosphate regulating hormone 33 frequent (33%) HP:0100530
26 abnormality of calcium-phosphate metabolism 60 Frequent (79-30%)

Drugs & Therapeutics for Microlissencephaly-Micromelia Syndrome

Search Clinical Trials , NIH Clinical Center for Microlissencephaly-Micromelia Syndrome

Genetic Tests for Microlissencephaly-Micromelia Syndrome

Anatomical Context for Microlissencephaly-Micromelia Syndrome

MalaCards organs/tissues related to Microlissencephaly-Micromelia Syndrome:

42
Brain

Publications for Microlissencephaly-Micromelia Syndrome

Variations for Microlissencephaly-Micromelia Syndrome

Expression for Microlissencephaly-Micromelia Syndrome

Search GEO for disease gene expression data for Microlissencephaly-Micromelia Syndrome.

Pathways for Microlissencephaly-Micromelia Syndrome

GO Terms for Microlissencephaly-Micromelia Syndrome

Sources for Microlissencephaly-Micromelia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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