Mutations in PHGDH gene may cause the following signs and symptoms:
Head
- Microcephaly (abnormally small head)
Neck
- Short neck
Face
- Sloping forehead
- Undersized jaw
- Protruding eyes
- Increased distance between the eyes
- Clouding of the lens of the eye
- Absent eyelids
- Abnormally small eyes
- Absent eyelashes
- Large ears
- Flattened nose
- Thick lips
- Gaping mouth
- Cleft palate and cleft lip
Cardiovascular
- Defects of the walls of the heart
- Other congenital anomalies of the heart
Respiratory
- Lung underdevelopment
Skeletal
- Short limbs
- Joint contractures
- Pterygia (pinkish, triangular tissue growth on the cornea of the eye)
- Toes and/or fingers that failed to separate and/or were bent (camptodactyly)
- Wedge-shaped fifth finger
- Puffiness of hands and feet
- Poorly mineralized bones
Skin
- Thin, scaly yellow skin
- Absent eyelashes
- Absent scalp hair
Central Nervous System
- Absence of brain folds
- Underdevelopment or absence of corpus callosum (the part that connects the two hemispheres of the brain together)
- Underdevelopment or absence of the cerebellum (the part of the brain mainly responsible for coordinating movement)
- Absence of nerves responsible for sense of smell
- Spina bifida (incomplete closing of the backbone and the membranes around the spinal cord
- Dandy-walker malformation (a congenital anomaly affecting mainly the cerebellum and causing fluid accumulation and increased pressure inside the skull, which may to multiple brain function problems)
Other
- Excess of amniotic fluid in the amniotic sac
- Short umbilical cord
- Small placenta