Phenotype #0000034296

Individual ID 00046772
Associated disease CDG-1
Phenotype details see paper; at birth:microcephaly, dysmorphic features (excess skin around tneck and micrognathia), displayed increased fat pads, mild hypospadias, clinodactyly 4th/5th toes bilaterally, ...
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Bobby Ng