2002年7月24日 · OFD1 is characterized by renal cystic disease in approximately 50% of individuals and by the X-linked inheritance pattern in families with more than one affected …

Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits …

Orofaciodigital syndrome 1 (OFD1), also called Papillon-Léage and Psaume syndrome, [1] is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits …

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external …

2012年2月21日 · Oral-facial-digital syndrome type I (OFDSI) is a multiple anomaly syndrome inherited as an X-linked dominant trait. OFDS1 is caused by defects in the OFD1 gene, which …

2024年12月25日 · OFD1 (OFD1 Centriole And Centriolar Satellite Protein) is a Protein Coding gene. Diseases associated with OFD1 include Orofaciodigital Syndrome I and Retinitis …

2021年11月16日 · Oral-facial-digital syndrome (OFDS) is a group of conditions that affect the development of their oral cavity (mouth, tongue, teeth, and jaw), face (head, eyes and nose) …

Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene. [5][6][7] Human chromosomal region Xp22.3-p21.3 comprises the area between the …

Orofaciodigital Syndrome (OFD) is a complex group of genetic disorders marked by malformations of the oral cavity, facial features, and digits. With numerous variations identified, …

What is orofaciodigital syndrome type 1? Orofaciodigital syndrome type 1 (OMIM#311200) is a rare genetic disorder that affects females. It is characterised by malformations of the mouth, …