Lissencephaly type 3 - metacarpal bone dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 22
OrphanetNr: 86822
OMIM Id: 601160
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: Lissencephaly type 3
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002304) Akinesia 18 / 7739
2
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
3
 (HPO:0001989) Fetal akinesia sequence 14 / 7739
4
 (HPO:0001561) Polyhydramnios 191 / 7739
5
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
6
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
7
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
8
 (HPO:0002529) Neuronal loss in central nervous system 37 / 7739
9
 (OMIM) Primary central nervous system degeneration 1 / 7739
10
 (HPO:0007009) Central nervous system degeneration 5 / 7739
11
 (HPO:0045028) Type III lissencephaly 1 / 7739
12
 (OMIM) Bilateral multicystic periventricular lesions extending to the basal ganglia 1 / 7739
13
 (OMIM) Smooth brain 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Severe neuronal loss 1 / 7739
16
 (OMIM) Severe arthrogryposis 2 / 7739
17
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
18
 (HPO:0002335) Agenesis of cerebellar vermis 25 / 7739
19
 (OMIM) Vermis agenesis 1 / 7739
20
 (OMIM) Cerebral malformation 3 / 7739
21
 (OMIM) Large ventricles 1 / 7739
22
 (OMIM) Cystic cerebellum 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: