Table 2. [FGFR1 Allelic Disorders]. - GeneReviews®

FGFR1 Germline Pathogenic Variants Causing:	Phenotype
Loss of function ¹	Isolated gonadotropin-releasing hormone (GnRH) deficiency
Kallmann syndrome
Kallmann syndrome w/additional features incl: digital anomalies that are distict from ectrodactyly; mild expression of HPE (e.g., corpus callosum agenesis, central incisor)
Septooptic-like dysplasia
Gain of function	Pfeiffer syndrome (See FGFR-Related Craniosynostosis Syndromes.)
Osteoglophonic dysplasia (OMIM 166250)

From: FGFR1-Related Hartsfield Syndrome

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