X-linked complicated corpus callosum dysgenesis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 1497
OMIM Id: 304100
ICD-10: Q04.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 11 cases [Orphanet]
Inheritance: X-linked recessive
X-linked
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: L1 syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Comment:

L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (Orphanet, Dec 2016).

Symptom Information: Sort by abundance 

1
(HPO:0001999) Abnormal facial shape 169 / 7739
2
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
3
(HPO:0001249) Intellectual disability 1089 / 7739
4
(HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
5
(HPO:0001257) Spasticity 251 / 7739
6
(HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
7
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
8
(HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
9
(HPO:0001417) X-linked inheritance 173 / 7739
10
(OMIM) Arm weakness 2 / 7739
11
(HPO:0007068) Inferior vermis hypoplasia 6 / 7739
12
(OMIM) Interhemispheric cyst 2 / 7739
13
(HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
14
(HPO:0000238) Hydrocephalus 278 / 7739
15
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
16
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
17
(HPO:0001338) Partial agenesis of the corpus callosum 22 / 7739
18
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
19
(OMIM) Hypoplasia of inferior vermis and cerebellum 1 / 7739

Associated genes:

L1CAM;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Menkes et al. (1964) described a family with 5 males (in 4 sibships of 2 generations connected through females) with partial agenesis of the corpus callosum. Clinical features included severe intellectual retardation and intractable seizures. Postmortem studies of ...
Molecular genetics OMIM In 2 Jewish sibs with X-linked partial agenesis of the corpus callosum, Basel-Vanagaite et al. (2006) identified a heterozygous mutation in the L1CAM gene (308840.0017). The authors emphasized the well-known inter- and intrafamilial phenotypic variability in patients with ...