Phenotype #0000174354

Individual ID 00233932
Associated disease FDH
Phenotype details pulmonic atresia, atrial and ventricular septal defects,overriding aorta, umbilical hernia, low set ears, orbital cyst, brachycephaly, pachygyria, abnormal EEG, uterus and vaginal aplasia, lethal outcome ; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); heart defect (HP:0001627), ND; 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