| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 2 (39.0%) |
11898925 |
Barriers to dietary control among pregnant women with phenylketonuria--United States, 1998-2000. . MMWR Morb Mortal Wkly Rep. 2002;51(6):117-20. |
| Microcephaly | ||
| Adult Females Food, Formulated Health Services Accessibility Homo sapiens Phenylketonuria, Maternal Pregnancy Pregnancy Outcome United States | ||
| 2 (39.0%) |
10858866 |
[Pseudo-inherited form of left heart obstructive defects revealing maternal phenylketonuria]. Saliba Z, Bah G, Martin D, Abadie V, Azar Z, Fraisse A, Sidi D, Kachaner J, Bonnet D. Arch Mal Coeur Vaiss. 2000;93(5):649-52. |
| Microcephaly | ||
| Congenital Heart Defects Females Homo sapiens Infant, Newborn Male Microcephaly Nuclear Family Phenylketonurias Pregnancy Pregnancy Complications | ||
| 2 (39.0%) |
10607480 |
Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctata. Dahl HH, Osborn AH, Hutchison WM, Thorburn DR, Sheffield LJ. Mol Genet Metab. 1999;68(4):503-6. |
| Microcephaly | ||
| ARSE | ||
| p|SUB|R|12|S | ||
| Amino Acid Substitution Arylsulfatases Chondrodysplasia Punctata DNA Mutational Analysis Exons Females Homo sapiens Male Missense Mutation Phenylketonurias Polymerase Chain Reaction | ||
| 2 (39.0%) |
10571768 |
Repeated adverse fetal outcome in pregnancy complicated by uncontrolled maternal phenylketonuria. Kesby G. J Paediatr Child Health. 1999;35(5):499-502. |
| Microcephaly | ||
| Adult Females Fetal Diseases Homo sapiens Intellectual Disability Phenylketonuria, Maternal Pregnancy Pregnancy Complications Pregnancy Outcome Syndrome | ||
| 2 (39.0%) |
9853062 |
[Diagnosis of phenylketonuria in a 35-year-old mother in relation to prenatal diagnosis of intrauterine growth retardation with microcephaly]. Thibaud D, Ploussard JP, Vaquant PO, Chemouny S, Kleitz T. Arch Pediatr. 1998;5(11):1229-31. |
| Microcephaly | ||
| Abortion, Eugenic Adult Females Fetal Growth Retardation Homo sapiens Microcephaly Phenylketonurias Pregnancy Ultrasonography, Prenatal | ||
| 2 (39.0%) |
8648535 |
Maternal phenylketonuria: magnetic resonance imaging of the brain in offspring. Levy HL, Lobbregt D, Barnes PD, Poussaint TY. J Pediatr. 1996;128(6):770-5. |
| Microcephaly | ||
| Brain Child Corpus Callosum Females Follow-Up Studies Homo sapiens Infant Intellectual Disability Magnetic Resonance Imaging Male Microcephaly Phenylketonurias Pregnancy Prenatal Exposure Delayed Effects | ||
| 2 (39.0%) |
8101749 |
Successful management of a pregnancy with maternal phenylketonuria: report of a case. Huang RT, Lin SJ, Kuo PL, Peng CJ. J Formos Med Assoc. 1993;92(2):182-4. |
| Microcephaly | ||
| Adult Females Homo sapiens Infant, Newborn Male Phenylketonurias Pregnancy Pregnancy Complications | ||
| 2 (39.0%) |
3792388 |
A Chinese family with phenylketonuria and maternal phenylketonuria detected by family screening. Hsiao KJ, Chen CH, Chiu PC, Huang SC, Wuu KD. Eur J Pediatr. 1986;145(5):409-12. |
| Microcephaly | ||
| Adult Females Homo sapiens Intellectual Disability Male Mass Screening Phenylketonurias | ||
| 2 (39.0%) |
3611635 |
Abnormal cerebral cortical neurons in a child with maternal PKU syndrome. Lacey DJ, Terplan K. J Child Neurol. 1987;2(3):201-4. |
| Microcephaly | ||
| Dendrites Homo sapiens Infant Male Neurons Phenylketonurias | ||
| 2 (39.0%) |
3537998 |
Maternal phenylketonuria-chronology of the detrimental effects on embryogenesis and fetal development: pathological report, survey, clinical application. Fisch RO, Burke B, Bass J, Ferrara TB, Mastri A. Pediatr Pathol. 1986;5(3-4):449-61. |
| Microcephaly | ||
| Congenital Heart Defects Embryonic and Fetal Development Females Fetal Growth Retardation Gestational Age Homo sapiens Maternal-Fetal Exchange Microcephaly 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 |