Intellectual deficit, X-linked, Kroes type
General Information (adopted from Orphanet):
Synonyms, Signs: |
X-linked cerebral - cerebellar - coloboma syndrome |
Number of Symptoms | 27 |
OrphanetNr: | 163961 |
OMIM Id: |
300864
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | 3 cases [Orphanet] |
Inheritance: |
X-linked recessive [Orphanet] |
Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Genetic syndrome with a cerebellar malformation as major feature
-Rare genetic disease Syndrome with a cerebellar malformation as major feature -Rare developmental defect during embryogenesis -Rare neurologic disease X-linked syndromic intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
(HPO:0000932) | Abnormality of the posterior cranial fossa | 5 / 7739 | ||||
|
(HPO:0000256) | Macrocephaly | 298 / 7739 | ||||
|
(HPO:0000567) | Chorioretinal coloboma | 26 / 7739 | ||||
|
(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
|
(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
|
(HPO:0001250) | Seizures | 1245 / 7739 | ||||
|
(HPO:0011398) | Central hypotonia | 12 / 7739 | ||||
|
(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
|
(HPO:0000772) | Abnormality of the ribs | 146 / 7739 | ||||
|
(HPO:0002245) | Meckel diverticulum | 12 / 7739 | ||||
|
(HPO:0002104) | Apnea | 106 / 7739 | ||||
|
(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
|
(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
|
(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
|
(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
|
(OMIM) | Agenesis or severe hypoplasia of cerebellar vermis | 1 / 7739 | ||||
|
(OMIM) | Open Sylvian fissures | 1 / 7739 | ||||
|
(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
|
(HPO:0006956) | Dilation of lateral ventricles | 13 / 7739 | ||||
|
(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
|
(OMIM) | Thirteen ribs | 1 / 7739 | ||||
|
(OMIM) | Misshapen posterior fossa | 1 / 7739 | ||||
|
(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 | ||||
|
(OMIM) | Severely delayed psychomotor development | 2 / 7739 | ||||
|
(HPO:0006817) | Aplasia/Hypoplasia of the cerebellar vermis | 15 / 7739 | ||||
|
(OMIM) | Aberrant origin of right subclavian artery | 1 / 7739 | ||||
|
(OMIM) | Hyperpnea, periodic Apnea, periodic | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|
Additional Information:
Clinical Description OMIM |
Van Royen-Kerkhof et al. (1998) reported a nonconsanguineous family of Indonesian and white Dutch ancestry in which 2 brothers had a Joubert (see 213300)-like syndrome, and 1 of the brothers and a sister also had type I Gaucher ... |