Phenotype #0000174312

Individual ID 00233890
Associated disease FDH
Phenotype details hypoplastic left heart, lethal outcome ; no patchy alopecia (-HP:0002232), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), coloboma (HP:0000589); no microcephaly (-HP:0000252); heart defect (HP:0001627); omphalocele (HP:0001539), IUGR (HP:0001511)
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