Phenotype #0000174285

Individual ID 00233863
Associated disease FDH
Phenotype details Blashkolinear pigmentation, costovertebral dyssegmentation, diastasis pubis; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257); microphthalmia (HP:0000568); microcephaly (HP:0000252); mental retardation (HP:0001249);
Diagnosis/Initial Goltz-Gorlin syndrome
Inheritance Unknown
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