onset Symptoms present at birth 0003577 Delayed CNS myelination 0002188 Drooling Dribbling 0002307 Dysarthria Difficulty articulating speech 0001260 Feeding difficulties
[rarediseases.info.nih.gov]
Buphthalmos, increased intraocular pressure, corneal haze, myopia AR CYP1B1, MYOC #231300, %600975 GLAUCOMA, OPEN ANGLE JUVENILE ONSET Increased intraocular pressure, myopia
[eyewiki.aao.org]
[…] gene CRYAB Myopathy, distal type 1 MYH7 Myopathy, distal type 4 FLNC Myopathy, distal with anterior tibial onset DYSF Myopathy, distal, Tateyama type CAV3 Myopathy, early-onset
[centogene.com]