Phenotype #0000016183

Individual ID 00016951
Associated disease BOFS
Phenotype details born 38w pregnancy, birth weight 3100g; facial dysmorphism: bilateral upper lip cleft, dimples upper lip, low-set ears, parotid fistula, microgenia, branchial cysts neck, hair growth neck, ellipsoidal eye shape; first months frequent apnoeic spells and complicating respiratory failure resulting in superimposed tracheostomy tube; 8y-coloboma optic nerve, CT scan temporal bone right external auditory canal atresia
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andrey Marakhonov