Phenotype #0000174342

Individual ID	00233920
Associated disease	FDH
Phenotype details	bilateral anophtalmos split sternum, absent nail L 2nd finger, ; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), scoliosis (HP:0002650), ectrodactyly (HP:0100257); oligodontia (HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568); mental retardation (HP:0001249);
Diagnosis/Initial	Goltz-Gorlin syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	FDH
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Maria Paola Lombardi
Database submission license	No license selected
Created by	Maria Paola Lombardi