Intellectual deficit, X-linked - cubitus valgus - dysmorphism

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 22
OrphanetNr: 85280
OMIM Id: 300471
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
2
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
3
 (HPO:0001999) Abnormal facial shape 169 / 7739
4
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
5
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
6
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
7
 (HPO:0000272) Malar flattening Frequent [Orphanet] 277 / 7739
8
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
9
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
10
 (HPO:0002342) Intellectual disability, moderate 37 / 7739
11
 (HPO:0001182) Tapered finger Occasional [Orphanet] 93 / 7739
12
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
13
 (HPO:0002967) Cubitus valgus Very frequent [Orphanet] 49 / 7739
14
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
15
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
16
 (HPO:0001956) Truncal obesity Frequent [Orphanet] 39 / 7739
17
 (HPO:0000995) Melanocytic nevus Very frequent [Orphanet] 63 / 7739
18
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
19
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
20
 (OMIM) Inverted 'V-shaped' mouth 3 / 7739
21
 (OMIM) Truncal obesity, mild 1 / 7739
22
 (OMIM) Nevi, multiple 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jones and Smith (1973) described 2 male maternal first cousins with a similar pattern of malformation, including mental retardation, cubitus valgus, and unusual facies. Jones et al. (2003) described 3 additional cases, a 10-year-old male, his 30-year-old maternal ...