| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (53.1%) |
15811181 (1079877) |
An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria. Knerr I, Zschocke J, Schellmoser S, Topf HG, Weigel C, Dotsch J, Rascher W. BMC Pediatr. 2005;5(1):5. |
| Microcephaly Brachydactyly | ||
| p|SUB|L|48|S p|SUB|P|281|L | ||
| Adult Child Child, Preschool Females Homo sapiens Intellectual Disability Male Microcephaly Phenylketonuria, Maternal Pregnancy | ||
| 2 (39.0%) |
27898272 |
Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride. Yildiz Y, Dursun A, Tokatli A, Coskun T, Sivri S. Gynecol Endocrinol. 2017;33(1):19-20. |
| Microcephaly | ||
| Adult Biopterin Females Homo sapiens Hydatidiform Mole Phenylketonuria, Maternal Pregnancy Pregnancy Outcome | ||
| 2 (39.0%) |
26781416 |
[Psychomotor retardation and intermitent convulsions for 8 months in an infant]. Ding Y, Li XY, Liu YP, Li DX, Song JQ, Li MQ, Qin YP, Wu TF, Yang YL. Zhongguo Dang Dai Er Ke Za Zhi. 2016;18(1):67-71. |
| Microcephaly | ||
| PAH | ||
| c|SUB|A|611|G;RS#:62514927 p|SUB|Y|204|C;RS#:62514927 | ||
| Adult Epilepsy Females Homo sapiens Infant Intellectual Disability Male Phenylalanine Hydroxylase Phenylketonuria, Maternal Pregnancy | ||
| 2 (39.0%) |
20595329 |
A case of maternal phenylketonuria syndrome presenting with unilateral renal agenesis. Gokmen T, Oguz SS, Altug N, Akar M, Erdeve O, Dilmen U. J Trop Pediatr. 2011;57(2):138-40. |
| Microcephaly | ||
| Congenital Abnormality Congenital Heart Defects Differential Diagnosis Females Homo sapiens Infant, Newborn Kidney Kidney Diseases Microcephaly Phenylketonuria, Maternal Pregnancy Pregnancy Complications Pregnancy Outcome Radionuclide Imaging Syndrome Ultrasonography X-Ray Computed Tomography Young Adult | ||
| 2 (39.0%) |
19898791 |
A case of maternal PKU syndrome despite intensive patient counseling. Unger S, Weigel JF, Stepan H, Baerwald CG. Wien Med Wochenschr. 2009;159(19-20):507-10. |
| Microcephaly | ||
| Congenital Heart Defects Diet, Protein-Restricted Females Fetal Growth Retardation Genetic Counseling Homo sapiens Infant, Newborn Male Phenylketonurias Pregnancy Pregnancy Complications Ultrasonography, Prenatal Young Adult | ||
| 2 (39.0%) |
19557660 |
Undiagnosed maternal phenylketonuria: own clinical experience and literature review. Bouchlariotou S, Tsikouras P, Maroulis G. J Matern Fetal Neonatal Med. 2009;22(10):943-8. |
| Microcephaly | ||
| PAH | ||
| Abortion, Eugenic Adult Delayed Diagnosis Females Homo sapiens Phenylketonurias Pregnancy Pregnancy Complications Ventricular Septal Defects | ||
| 2 (39.0%) |
19485248 |
[The maternal phenylketonuria syndrom--still current problem]. Didycz B, Domagala L, Pietrzyk JJ. Przegl Lek. 2009;66(1-2):4-10. |
| Microcephaly | ||
| Adult Child Child, Preschool Comorbidity Females Health Knowledge, Attitudes, Practice Heterozygote Homo sapiens Incidence Infant Infant, Newborn Middle Aged Phenylketonuria, Maternal Practice Patterns, Physicians' Pregnancy Pregnancy Outcome Prenatal Exposure Delayed Effects Syndrome Young Adult | ||
| 2 (39.0%) |
17093378 |
Maternal hyperphenylalaninemia syndrome: neuropsychological evaluation of four subjects during childhood and adolescence. Corsello G, Cicero L, Giuffre M, La Grutta S, Piccione M, Pusateri F, Ciaccio M, Roccella M. Minerva Pediatr. 2006;58(6):557-69. |
| Microcephaly | ||
| Adult Age Factors Child Child Behavior Disorders Cognition Disorders Family Females Homo sapiens Intellectual Disability Intelligence Tests Male Neuropsychological Tests Phenylketonuria, Maternal Pregnancy Socioeconomic Factors | ||
| 2 (39.0%) |
15320931 |
Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria. Shaw-Smith C, Hogg SL, Reading R, Calvin J, Trump D. Child Care Health Dev. 2004;30(5):551-5. |
| Microcephaly | ||
| Adult Child Child Behavior Disorders Females Homo sapiens Learning Disabilities Male Phenotype Phenylketonuria, Maternal Pregnancy | ||
| 2 (39.0%) |
11999984 |
Nasomaxillary hypoplasia and severe orofacial clefting in a child of a mother with phenylketonuria. Sweeney E, Fryer A. J Inherit Metab Dis. 2002;25(1):77-9. |
| Microcephaly | ||
| Cleft Palate Females Homo sapiens Infant Male Maxillofacial Abnormalities Microcephaly Nose Phenylketonurias Pregnancy |
Total: 32
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001627 | Abnormal heart morphology | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001680 | Coarctation of aorta | Frequent (79-30%) |
| HP:0001999 | Abnormal facial shape | Frequent (79-30%) |
| HP:0004383 | Hypoplastic left heart | Frequent (79-30%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000431 | Wide nasal bridge | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000752 | Hyperactivity | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0001719 | Double outlet right ventricle | Occasional (29-5%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Very rare (4-1%) |
| HP:0000340 | Sloping forehead | Very rare (4-1%) |
| HP:0000486 | Strabismus | Very rare (4-1%) |
| HP:0000601 | Hypotelorism | Very rare (4-1%) |
| HP:0001156 | Brachydactyly | Very rare (4-1%) |
| HP:0001488 | Bilateral ptosis | Very rare (4-1%) |
| HP:0002032 | Esophageal atresia | Very rare (4-1%) |
| HP:0002836 | Bladder exstrophy | Very rare (4-1%) |
| HP:0004411 | Deviated nasal septum | Very rare (4-1%) |
| HP:0008589 | Hypoplastic helices | Very rare (4-1%) |
| HP:0009611 | Bifid distal phalanx of the thumb | Very rare (4-1%) |
| HP:0012210 | Abnormal renal morphology | Very rare (4-1%) |
| HP:0030084 | Clinodactyly | Very rare (4-1%) |
Total: 10
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 10 |
| HP:0000756 | Agoraphobia | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0002023 | Anal atresia | 1 |
| HP:0002079 | Hypoplasia of the corpus callosum | 1 |
| HP:0004923 | Hyperphenylalaninemia | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0100543 | Cognitive impairment | 1 |