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 59
Basel-Vanagaite-Sirota Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
microlissencephaly-micromelia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 59  
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 long philtrum and short neck

Related Diseases for Microlissencephaly-Micromelia Syndrome

Symptoms & Phenotypes for Microlissencephaly-Micromelia Syndrome

Human phenotypes related to Microlissencephaly-Micromelia Syndrome:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
2 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
3 hypoparathyroidism 59 32 frequent (33%) Frequent (79-30%) HP:0000829
4 11 pairs of ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000878
5 adducted thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0001181
6 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
7 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
8 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
9 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
10 areflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001284
11 cerebellar hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001321
12 lissencephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001339
13 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
14 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
15 respiratory distress 59 32 hallmark (90%) Very frequent (99-80%) HP:0002098
16 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
17 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
18 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
19 generalized hypertrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004554
20 postnatal microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0005484
21 bilateral single transverse palmar creases 59 32 hallmark (90%) Very frequent (99-80%) HP:0007598
22 fetal pyelectasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010945
23 abnormality of calcium-phosphate metabolism 59 32 frequent (33%) Frequent (79-30%) HP:0100530
24 palpebral edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0100540
25 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280

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:

41
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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