callosum agenesis partial (HP:0001388), dysgenesis corpus callosum; severe myopia (HP:0011003); Isolated (sporadic) 06y - - - - Gijs Santen 00001504 0000000687 - CSS brith
[databases.lovd.nl]
callosum agenesis partial (HP:0001388), dysgenesis corpus callosum; severe myopia (HP:0011003); ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 SMARCA2, SMARCA4, SMARCB1
[databases.lovd.nl]
[…] interphalangeal joints (-HP:0006237); no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; pyloric hypertrophy; dextrocardia; kidney abnormality (HP:0000077); corpus
[databases.lovd.nl]