| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.3%) |
8135609 |
[Coffin-Lowry syndrome and hyperprolinemia]. Lacombe D, Parrot-Roulaud F, Castell JF, Serville F, Hehunstre JP, Battin J. Arch Fr Pediatr. 1993;50(6):489-92. |
| Anteverted nares Telecanthus Tapered finger Kyphoscoliosis | ||
| Adult Child, Preschool Congenital Hand Deformities Females Homo sapiens Intellectual Disability Male Syndrome X Chromosome | ||
| 2 (17.5%) |
4003043 |
A Fukuyama type of congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina. A case report. Mishima H, Hirata H, Ono H, Choshi K, Nishi Y, Fukuda K. Acta Ophthalmol (Copenh). 1985;63(2):155-9. |
| Hypotonia | ||
| FKTN | ||
| Amino Acids Child, Preschool Choroid Homo sapiens Male Muscular Dystrophy Retina | ||
| 3 (4.0%) |
11510941 |
Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance. Humbertclaude V, Rivier F, Roubertie A, Echenne B, Bellet H, Vallat C, Morin D. J Child Neurol. 2001;16(8):622-3. |
| Seizure | ||
| rs2904551 rs3970559 | ||
| Anticonvulsants Brain Cerebral Ventricles Epilepsy Homo sapiens Inborn Errors of Metabolism Infant Male Proline Dehydrogenase Subarachnoid Space | ||
| 3 (4.0%) |
7504361 |
Iminoglycinuria: a benign type of inherited aminoaciduria. Coskun T, Ozalp I, Tokatli A. Turk J Pediatr. 1993;35(2):121-5. |
| Aminoaciduria | ||
| Developmental Disabilities Homo sapiens Infant Infant, Newborn Male Renal Aminoacidurias | ||
| 3 (4.0%) |
1994998 |
[A case of type I hyperprolinemia associated with photogenic epilepsy]. Ishikawa Y, Kameda K, Okabe M, Imai T, Nagaoka M, Minami R. No To Hattatsu. 1991;23(1):81-6. |
| Hyperprolinemia | ||
| Amino Acid Metabolism, Inborn Errors Child Epilepsy Females Homo sapiens Light Proline Dehydrogenase | ||
| 3 (4.0%) |
955941 |
Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids in association with profound mental retardation, a possible "cerebral phenotype". Statter M, Ben-Zvi A, Shina A, Schein R, Russell A. Helv Paediatr Acta. 1976;31(2):173-82. |
| Progressive encephalopathy | ||
| Amino Acid Metabolism, Inborn Errors Females Homo sapiens Imino Acids Infant Intellectual Disability Intestinal Absorption Phenotype |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0008358 | Hyperprolinemia | 2 |
| HP:0003355 | Aminoaciduria | 1 |