Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia

General Information (adopted from Orphanet):

Synonyms, Signs: MRXS28
MENTAL RETARDATION, X-LINKED, SYNDROMIC 28
Graham-Cox syndrome
Number of Symptoms 35
OrphanetNr: 52055
OMIM Id: 300472
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare eye disease due to a differentiation anomaly
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000475) Broad neck 12 / 7739
2
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
3
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
4
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
5
 (HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
6
 (HPO:0000218) High palate 356 / 7739
7
 (HPO:0000278) Retrognathia 100 / 7739
8
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
9
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
10
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
11
 (HPO:0000426) Prominent nasal bridge Frequent [Orphanet] 121 / 7739
12
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
13
 (HPO:0000505) Visual impairment 297 / 7739
14
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
15
 (HPO:0000588) Optic nerve coloboma 27 / 7739
16
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
17
 (HPO:0000589) Coloboma 47 / 7739
18
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
19
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
20
 (HPO:0000378) Cupped ear 34 / 7739
21
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
22
 (HPO:0000369) Low-set ears 372 / 7739
23
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
24
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
25
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
26
 (HPO:0001249) Intellectual disability 1089 / 7739
27
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
28
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
29
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
30
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
31
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
32
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
33
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
34
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
35
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Graham et al. (2003) described 2 brothers with a seemingly unique pattern of malformations that included coloboma of the iris and optic nerve, high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum. Both boys had ...
Molecular genetics OMIM Because agenesis of the corpus callosum and the distinctive facial features were reminiscent of FG syndrome (305450), Graham et al. (2003) analyzed DNA for markers linked to the FGS1 locus at Xq13-q21. The brothers were concordant for markers ...