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
Date created	2010-03-18 15:03:45 +01:00 (CET)
Date last edited	2010-09-17 14:48:02 +02:00 (CEST)