Phenotype #0000174309

Individual ID 00233887
Associated disease FDH
Phenotype details midface hypoplasia; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257), skeletal defects (HP:0011842); oligodontia (HP:0000677), cleft lip/palate (HP:0000202); microphthalmia (HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249); occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322)
Diagnosis/Initial Goltz-Gorlin syndrome
Inheritance Familial
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 2010-03-29 10:18:49 +02:00 (CEST)

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