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: Sort by abundance 

1
(HPO:0000932) Abnormality of the posterior cranial fossa 5 / 7739
2
(HPO:0000256) Macrocephaly 298 / 7739
3
(HPO:0000567) Chorioretinal coloboma 26 / 7739
4
(HPO:0000369) Low-set ears 372 / 7739
5
(HPO:0000358) Posteriorly rotated ears 163 / 7739
6
(HPO:0001250) Seizures 1245 / 7739
7
(HPO:0011398) Central hypotonia 12 / 7739
8
(HPO:0001263) Global developmental delay 853 / 7739
9
(HPO:0000772) Abnormality of the ribs 146 / 7739
10
(HPO:0002245) Meckel diverticulum 12 / 7739
11
(HPO:0002104) Apnea 106 / 7739
12
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
13
(HPO:0001252) Muscular hypotonia 990 / 7739
14
(HPO:0001324) Muscle weakness 859 / 7739
15
(HPO:0010547) Muscle flaccidity 466 / 7739
16
(OMIM) Agenesis or severe hypoplasia of cerebellar vermis 1 / 7739
17
(OMIM) Open Sylvian fissures 1 / 7739
18
(HPO:0000238) Hydrocephalus 278 / 7739
19
(HPO:0006956) Dilation of lateral ventricles 13 / 7739
20
(HPO:0001419) X-linked recessive inheritance 189 / 7739
21
(OMIM) Thirteen ribs 1 / 7739
22
(OMIM) Misshapen posterior fossa 1 / 7739
23
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
24
(OMIM) Severely delayed psychomotor development 2 / 7739
25
(HPO:0006817) Aplasia/Hypoplasia of the cerebellar vermis 15 / 7739
26
(OMIM) Aberrant origin of right subclavian artery 1 / 7739
27
(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 ...