[…] growth and mental retardation, triangular face, prominent glabella, hypotelorism, bulbous nose, high arch palate, short neck, scoliosis, long slender hands/feet, genu valgum
[chr7.org]
Hyperphosphatemia Tetany Flexion contracture Polyneuropathy Hypergonadotropic hypogonadism Insulin resistance Apraxia Sloping forehead Pigmentary retinopathy Bradykinesia Hypotelorism
[mendelian.co]
Agammaglobulinemia (X-linked agammaglobulinemia) Defect: Tyrosine kinase in B cells DX: dec all Ig & no B cells(CD19), normal T cells(CD3) TX: IVIG Cleft lip, polydactyly, ocular hypotelorism
[quizlet.com]