hirsutism Hepatic fibrosis Pigmentary retinopathy Meningocele Breathing dysregulation Adducted thumb Hypertrophic cardiomyopathy Increased serum lactate Aciduria Metabolic
[mendelian.co]
hirsutism, high frontal hairline, high forehead with frontal bossing, low-set ears, attached ear lobule, hypertelorism, prominent eyes, arched eyebrows, palpebral fissures
[chr7.org]