Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated urinary gamma-glutamylphenylalanine level
Always present (100%)HP:6000281
Increased level of N-benzoylglycine in urine
Always present (100%)HP:0410066
Cardiac anomaly
Very frequent (80-99%)HP:0001627
Aortic coarctation
Frequent (30-79%)HP:0001680
Decreased size of cranium
Frequent (30-79%)HP:0000252
Funny looking face
Frequent (30-79%)HP:0001999
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Left ventricular hypoplasia
Frequent (30-79%)HP:0004383
Mental and motor retardation
Frequent (30-79%)HP:0001263
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Broad flat nasal bridge
Occasional (5-29%)HP:0000431
Double-outlet right ventricle
Occasional (5-29%)HP:0001719
High arched palate
Occasional (5-29%)HP:0000218
Hypoplasia of corpus callosum
Occasional (5-29%)HP:0002079
Hypoplastic mandible condyle
Occasional (5-29%)HP:0000347
Increased length of philtrum
Occasional (5-29%)HP:0000343
Nostrils anteverted
Occasional (5-29%)HP:0000463
Seizures
Occasional (5-29%)HP:0001250
Tetrology of fallot
Occasional (5-29%)HP:0001636
VSD
Occasional (5-29%)HP:0001629
Bilateral ptosis
Very rare (1-4%)HP:0001488
Bladder exstrophy
Very rare (1-4%)HP:0002836
Brachydactyly
Very rare (1-4%)HP:0001156
Curvature of digit
Very rare (1-4%)HP:0030084
Deviated nasal septum
Very rare (1-4%)HP:0004411
Esophageal atresia
Very rare (1-4%)HP:0002032
Hypoplastic helices
Very rare (1-4%)HP:0008589
Kidney malformation
Very rare (1-4%)HP:0012210
Notched outermost bone of thumb
Very rare (1-4%)HP:0009611
Ocular hypotelorism
Very rare (1-4%)HP:0000601
Quick Facts
- SNOMED CT
- 297225000
- UMLS CUI
- C0085547
- Fully Specified Name
- Maternal phenylketonuria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.