Mutations in PHGDH may cause the following clinical manifestations:
Head
- Microcephaly
Neck
- Short neck
Face
- Sloping forehead
- Micrognathia
- Protruding eyes
- Hypertelorism
- Cataract
- Nystagmus
- Absent eyelids
- Microphthalmia
- Absent eyelashes
- Large ears
- Flattened nose
- Thick lips
- Gaping mouth
- Cleft palate
- Cleft lip
Cardiovascular
- Ventriculoseptal defect
- Atrial septal defect
- Patent foramen ovale
- Patent ductus arteriosus
- Transposition of great vessels
Respiratory
- Pulmonary hypoplasia
Skeletal
- Short limbs
- Joint contractures
- Pterygia
- Syndactyly
- Camptodactyly
- Clinodactyly
- Puffiness of hands and feet
- Poorly mineralized bones
Skin
- Yellow subcutaneous tissue covered by thin, scaly skin
- Absent eyelashes
- Absent scalp hair
Central Nervous System
- Lissencephaly
- Agenesis of corpus callosum
- Cerebellar hypoplasia
- Absence of olfactory bulbs
- Spina bifida
- Hydranencephaly
- Dandy-walker malformation
- Choroid plexus cyst
- Seizures
Other
- Polyhydramnios
- Short umbilical cord
- Small placenta
- Stillborn or die in immediate neonatal period