| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (17.5%) |
7666399 |
Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. Shashi V, Zunich J, Kelly TE, Fryburg JS. J Med Genet. 1995;32(6):465-9. |
| Skin rash Scarring | ||
| PIGL | ||
| rs145303331 | ||
| Child Child, Preschool Congenital Heart Defects Females Follow-Up Studies Homo sapiens Ichthyoses Infant Intellectual Disability Male Seizures Syndrome | ||
| 2 (4.0%) |
30023290 (6047459) |
Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders. Altassan R, Fox S, Poulin C, Buhas D. Mol Genet Metab Rep. 2018;15:46-49. |
| Seizure | ||
| PIGL | ||
| p|SUB|R|88|C p|SUB|W|20|X | ||
| 2 (4.0%) |
25706356 |
Mutations in PIGL in a patient with Mabry syndrome. Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y. Am J Med Genet A. 2015;167A(4):777-85. |
| Intellectual disability | ||
| PIGL | ||
| c|DEL|254_255| c|DEL|36_48| | ||
| Amino Acid Sequence Animals Base Sequence Child, Preschool Cricetulus DNA Mutational Analysis Females Hamsters Homo sapiens Intellectual Disability Molecular Sequence Data N-Acetylglucosaminyltransferases Phosphorus Metabolism Disorders Sequence Deletion Syndrome | ||
| 2 (4.0%) |
9295069 |
Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome. Schnur RE, Greenbaum BH, Heymann WR, Christensen K, Buck AS, Reid CS. Am J Med Genet. 1997;72(1):24-9. |
| Retinal coloboma | ||
| PIGL | ||
| Child, Preschool Ectodermal Dysplasia Females Homo sapiens Ichthyoses Intellectual Disability Phenotype Precursor Cell Lymphoblastic Leukemia Lymphoma Skin Skin Abnormalities Syndrome |
Total: 48
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000098 | Tall stature | Very frequent (99-80%) |
| HP:0000164 | Abnormality of the dentition | Very frequent (99-80%) |
| HP:0000248 | Brachycephaly | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000322 | Short philtrum | Very frequent (99-80%) |
| HP:0000356 | Abnormality of the outer ear | Very frequent (99-80%) |
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0000457 | Depressed nasal ridge | Very frequent (99-80%) |
| HP:0000480 | Retinal coloboma | Very frequent (99-80%) |
| HP:0000486 | Strabismus | Very frequent (99-80%) |
| HP:0000508 | Ptosis | Very frequent (99-80%) |
| HP:0000668 | Hypodontia | Very frequent (99-80%) |
| HP:0000691 | Microdontia | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0006482 | Abnormality of dental morphology | Very frequent (99-80%) |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | Very frequent (99-80%) |
| HP:0007477 | Abnormal dermatoglyphics | Very frequent (99-80%) |
| HP:0008064 | Ichthyosis | Very frequent (99-80%) |
| HP:0010783 | Erythema | Very frequent (99-80%) |
| HP:0012471 | Thick vermilion border | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001636 | Tetralogy of Fallot | Frequent (79-30%) |
| HP:0001669 | Transposition of the great arteries | Frequent (79-30%) |
| HP:0001773 | Short foot | Frequent (79-30%) |
| HP:0004279 | Short palm | Frequent (79-30%) |
| HP:0005930 | Abnormality of epiphysis morphology | Frequent (79-30%) |
| HP:0006660 | Aplastic clavicle | Frequent (79-30%) |
| HP:0007957 | Corneal opacity | Frequent (79-30%) |
| HP:0009767 | Aplasia/Hypoplasia of the phalanges of the hand | Frequent (79-30%) |
| HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | Frequent (79-30%) |
| HP:0010882 | Pulmonary valve atresia | Frequent (79-30%) |
| HP:0011069 | Increased number of teeth | Frequent (79-30%) |
| HP:0000077 | Abnormality of the kidney | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000717 | Autism | Occasional (29-5%) |
| HP:0000962 | Hyperkeratosis | Occasional (29-5%) |
| HP:0001006 | Hypotrichosis | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0002120 | Cerebral cortical atrophy | Occasional (29-5%) |
| HP:0002213 | Fine hair | Occasional (29-5%) |
| HP:0002488 | Acute leukemia | Occasional (29-5%) |
| HP:0002797 | Osteolysis | Occasional (29-5%) |
| HP:0002827 | Hip dislocation | Occasional (29-5%) |
| HP:0100760 | Clubbing of toes | Occasional (29-5%) |
| HP:0200042 | Skin ulcer | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001249 | Intellectual disability | 1 |