| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (10.8%) |
9222959 |
Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22. Strain L, Wright AF, Bonthron DT. J Med Genet. 1997;34(7):535-40. |
| Hydrocephalus Vascular dilatation | ||
| L1CAM | ||
| Adult Alleles Cerebral Palsy Chromosome Mapping Face Females Homo sapiens Hydrocephalus Intellectual Disability Male Middle Aged Phenotype Sex Chromosome Aberrations Syndrome X Chromosome | ||
| 2 (5.0%) |
17617514 |
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. Saillour Y, Zanni G, Des Portes V, Heron D, Guibaud L, Iba-Zizen MT, Pedespan JL, Poirier K, Castelnau L, Julien C, Franconnet C, Bonthron D, Porteous ME, Chelly J, Bienvenu T. J Med Genet. 2007;44(11):739-44. |
| Hydrocephalus | ||
| p|SUB|Q|66|X;RS#:137852213 rs137852213 rs587776739 | ||
| Adaptor Protein Complex sigma Subunits Basal Ganglia Diseases Brain Calcinosis Cerebellar Nuclei Codon, Nonsense Exons Face France Homo sapiens Hydrocephalus Infant, Newborn Male Mental Retardation, X-Linked Optic Atrophies, Hereditary RNA Splice Sites Scotland Syndrome |
Total: 21
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000238 | Hydrocephalus | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001264 | Spastic diplegia | Very frequent (99-80%) |
| HP:0002342 | Intellectual disability, moderate | Very frequent (99-80%) |
| HP:0002465 | Poor speech | Very frequent (99-80%) |
| HP:0002514 | Cerebral calcification | Very frequent (99-80%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000276 | Long face | Frequent (79-30%) |
| HP:0000280 | Coarse facial features | Frequent (79-30%) |
| HP:0000322 | Short philtrum | Frequent (79-30%) |
| HP:0000400 | Macrotia | Frequent (79-30%) |
| HP:0000718 | Aggressive behavior | Frequent (79-30%) |
| HP:0000729 | Autistic behavior | Frequent (79-30%) |
| HP:0001288 | Gait disturbance | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000587 | Abnormality of the optic nerve | Occasional (29-5%) |
| HP:0001317 | Abnormal cerebellum morphology | Occasional (29-5%) |
| HP:0002684 | Thickened calvaria | Occasional (29-5%) |
| HP:0003202 | Skeletal muscle atrophy | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|