| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (17.5%) |
17195938 |
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis. Mastroyianni SD, Garoufi A, Voudris K, Skardoutsou A, Stefanidis CJ, Katsarou E, Gooding R, Kalaydjieva L. Eur J Pediatr. 2007;166(7):747-9. |
| Rhabdomyolysis | ||
| Cataract Child, Preschool Developmental Disabilities Facial Nerve Diseases Homo sapiens Male Paresis Reflex, Abnormal Rhabdomyolysis Syndrome | ||
| 2 (4.0%) |
17578274 |
[Congenital cataracts facial dysmorphism neuropathy syndrome--first Hungarian case report]. Siska E, Neuwirth M, Rebecca G, Molnar MJ. Ideggyogy Sz. 2007;60(5-6):257-62. |
| Hypogonadism | ||
| CTDP1 | ||
| Brain Cataract Child Child, Preschool Developmental Disabilities Facial Nerve Diseases Females Homo sapiens Hungary Infant Magnetic Resonance Imaging Mutation Nuclear Proteins Polymerase Chain Reaction Protein Phosphatase 1 Psychomotor Performance Syndrome X-Ray Computed Tomography | ||
| 2 (4.0%) |
11805249 |
Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes. Merlini L, Gooding R, Lochmuller H, Muller-Felber W, Walter MC, Angelicheva D, Talim B, Hallmayer J, Kalaydjieva L. Neurology. 2002;58(2):231-6. |
| Cataract | ||
| Cataract Child Child, Preschool Chromosomes, Human, Pair 18 Face Females Founder Effect Germany Haplotypes Homo sapiens Infant Infant, Newborn Italy Lod Score Male Myoglobinuria Phenotype Pregnancy Short Tandem Repeat Spinocerebellar Degeneration Syndrome |
Total: 30
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000044 | Hypogonadotrophic hypogonadism | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000518 | Cataract | Very frequent (99-80%) |
| HP:0000639 | Nystagmus | Very frequent (99-80%) |
| HP:0000763 | Sensory neuropathy | Very frequent (99-80%) |
| HP:0001251 | Ataxia | Very frequent (99-80%) |
| HP:0001256 | Intellectual disability, mild | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001310 | Dysmetria | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0002080 | Intention tremor | Very frequent (99-80%) |
| HP:0003134 | Abnormality of peripheral nerve conduction | Very frequent (99-80%) |
| HP:0003401 | Paresthesia | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0007002 | Motor axonal neuropathy | Very frequent (99-80%) |
| HP:0010620 | Malar prominence | Very frequent (99-80%) |
| HP:0100490 | Camptodactyly of finger | Very frequent (99-80%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000527 | Long eyelashes | Frequent (79-30%) |
| HP:0000568 | Microphthalmia | Frequent (79-30%) |
| HP:0000939 | Osteoporosis | Frequent (79-30%) |
| HP:0001943 | Hypoglycemia | Frequent (79-30%) |
| HP:0002120 | Cerebral cortical atrophy | Frequent (79-30%) |
| HP:0003319 | Abnormality of the cervical spine | Frequent (79-30%) |
| HP:0008942 | Acute rhabdomyolysis | Frequent (79-30%) |
| HP:0000482 | Microcornea | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0007256 | Abnormal pyramidal sign | Occasional (29-5%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002913 | Myoglobinuria | 1 |
| HP:0003201 | Rhabdomyolysis | 1 |
| HP:0009830 | Peripheral neuropathy | 1 |