Frontonasal dysplasia with alopecia and genital anomaly

Definition

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

Also known as ALX4-related FNDAG, craniofrontonasal dysplasia with alopecia and hypogonadism, frontonasal dysplasia type 2, frontonasal dysplasia with alopecia and genital abnomality — per MONDO

Also identified as

• DOID 0081046 per MONDO
• OMIM 613451 per MONDO
• Orphanet 228390 per MONDO
• SCTID 725029001 per MONDO
• UMLS C3150703 per MONDO