| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 41 (4.0%) |
6620332 |
Unusual ocular findings in an infant with cri-du-chat syndrome. Kitsiou-Tzeli S, Dellagrammaticas HD, Papas CB, Ladas ID, Bartsocas CS. J Med Genet. 1983;20(4):304-7. |
| Cataract | ||
| Cataract Chromosomes, Human Cri-du-Chat Syndrome Homo sapiens Infant, Newborn Male Phenotype | ||
| 41 (4.0%) |
3165127 |
Lensectomy in an infant with cri du chat syndrome and cataracts. Farrell JW, Morgan KS, Black S. J Pediatr Ophthalmol Strabismus. 1988;25(3):131-4. |
| Cataract | ||
| Cataract Cataract Extraction Chromosome Aberrations Contact Lenses, Extended-Wear Cri-du-Chat Syndrome Homo sapiens Infant, Newborn Male | ||
| 41 (4.0%) |
2206616 |
Two cases of cri-du-chat syndrome with mild phenotypic effect but with different size of 5p deletion. Smith A, Field B, Murray R, Nelson J. J Paediatr Child Health. 1990;26(3):152-4. |
| Growth delay | ||
| Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 5 Cri-du-Chat Syndrome Females Homo sapiens Phenotype | ||
| 41 (4.0%) |
1515381 |
Association of schizophrenia and partial trisomy of chromosome 5p. A case report. Malaspina D, Warburton D, Amador X, Harris M, Kaufmann CA. Schizophr Res. 1992;7(2):191-6. |
| Schizophrenia | ||
| Chromosomes, Human, Pair 5 Females Homo sapiens Neuropsychological Tests Phenotype Psychiatric Status Rating Scales Schizophrenia Schizophrenic Psychology Trisomy | ||
| 41 (4.0%) |
1320183 |
[Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome]. Berio A, Trucchi R, Meliota M. Minerva Pediatr. 1992;44(5):223-9. |
| Aniridia | ||
| Aniridia Child Cri-du-Chat Syndrome Differential Diagnosis Gigantism Goldenhar Syndrome Homo sapiens Infant Kidney Neoplasm Male Maxilla Nephroblastoma Syndrome Tooth Abnormalities | ||
| 41 (4.0%) |
834552 |
[Prenatal detection of crying cat syndrome due to balanced translocation in one parent]. Barjaktarovic N, Pendic B, Garzicic B, Popovic M, Paljm A. Nouv Presse Med. 1977;6(3):180-2. |
| Spontaneous abortion | ||
| Amniocentesis Chromosome Aberrations Cri-du-Chat Syndrome Females Homo sapiens Male Pregnancy | ||
| 41 (4.0%) |
641952 |
Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome. Mattei JF, Mattei MG, Coignet J, Giraud F. J Med Genet. 1978;15(2):154-7. |
| Encephalopathy | ||
| Child Chromosomes, Human, 1-3 Chromosomes, Human, 13-15 Chromosomes, Human, 4-5 Cri-du-Chat Syndrome Homo sapiens Male Sex Chromosomes Y Chromosome | ||
| 41 (4.0%) |
104624 |
Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome). Wilcox LM Jr, Bercovitch L, Howard RO. Am J Ophthalmol. 1978;86(6):834-9. |
| Hypertelorism | ||
| Adult Azure Stains Blepharoptosis Chromosome Deletion Chromosomes, Human, 4-5 Eye Abnormalities Females Homo sapiens Infant Male Pregnancy Strabismus Syndrome |
Total: 27
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000308 | Microretrognathia | Very frequent (99-80%) |
| HP:0000311 | Round face | Very frequent (99-80%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001608 | Abnormality of the voice | Very frequent (99-80%) |
| HP:0001620 | High pitched voice | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0011344 | Severe global developmental delay | Very frequent (99-80%) |
| HP:0200046 | Cat cry | Very frequent (99-80%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0200055 | Small hand | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000384 | Preauricular skin tag | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002757 | Recurrent fractures | Occasional (29-5%) |
| HP:0004348 | Abnormality of bone mineral density | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
Total: 40
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 7 |
| HP:0000316 | Hypertelorism | 4 |
| HP:0001249 | Intellectual disability | 3 |
| HP:0025356 | Psychomotor retardation | 3 |
| HP:0000347 | Micrognathia | 2 |
| HP:0002119 | Ventriculomegaly | 2 |
| HP:0200046 | Cat cry | 2 |
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000286 | Epicanthus | 1 |
| HP:0000311 | Round face | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000476 | Cystic hygroma | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000526 | Aniridia | 1 |
| HP:0000609 | Optic nerve hypoplasia | 1 |
| HP:0001156 | Brachydactyly | 1 |
| HP:0001166 | Arachnodactyly | 1 |
| HP:0001319 | Neonatal hypotonia | 1 |
| HP:0001320 | Cerebellar vermis hypoplasia | 1 |
| HP:0001510 | Growth delay | 1 |
| HP:0001612 | Weak cry | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001791 | Fetal ascites | 1 |
| HP:0002015 | Dysphagia | 1 |
| HP:0002084 | Encephalocele | 1 |
| HP:0002414 | Spina bifida | 1 |
| HP:0002521 | Hypsarrhythmia | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002748 | Rickets | 1 |
| HP:0007957 | Corneal opacity | 1 |
| HP:0008288 | Nonketotic hyperglycinemia | 1 |
| HP:0011426 | Fetal choroid plexus cysts | 1 |
| HP:0025429 | Abnormal cry | 1 |
| HP:0025430 | High-pitched cry | 1 |
| HP:0030048 | Colpocephaly | 1 |
| HP:0030961 | Microspherophakia | 1 |
| HP:0100753 | Schizophrenia | 1 |
| HP:0200006 | Slanting of the palpebral fissure | 1 |