Microlissencephaly - micromelia

General Information (adopted from Orphanet):

Synonyms, Signs: Basel-Vanagaite-Sirota syndrome
Number of Symptoms 27
OrphanetNr: 50810
OMIM Id:
ICD-10: Q04.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cerebral malformation with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000072) Hydroureter Very frequent [Orphanet] 146 / 7739
2
(HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
3
(HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
4
(HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
5
(HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
6
(HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
7
(HPO:0100540) Palpebral edema Very frequent [Orphanet] 31 / 7739
8
(HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
9
(HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
10
(HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
11
(HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
12
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
13
(HPO:0000829) Hypoparathyroidism Frequent [Orphanet] 22 / 7739
14
(HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
15
(HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
16
(HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
17
(HPO:0000921) Missing ribs Very frequent [Orphanet] 62 / 7739
18
(HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
19
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
20
(HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
21
(HPO:0100530) Abnormality of calcium-phosphate metabolism Frequent [Orphanet] 12 / 7739
22
(HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
23
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
24
(HPO:0002536) Abnormal cortical gyration Very frequent [Orphanet] 72 / 7739
25
(HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
26
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
27
(HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: