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encyclopedia of Rare Disease Annotation for Precision Medicine

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Disease	cleft soft palate
Comorbidity	C0236792\|asperger syndrome
Sentences	1
PubMedID- 24297458	In three cases, we identified rare cnvs: two de novo deletions at 13q12.11 and 5q35.3, and in one patient, a deletion at 10q21.3 and a duplication at 19p13.42p13.43.table 2cnvs potentially pathogenic for dd/idptsexage (years)previous negative genetic testsacgh results (hg 18)genessize (mb)verification/parental studiesinheritanceclinical features39f15karyotype/subtelomeric test2p21 (45,248,256–45,793,855)x3 2q37.2q37.3 (236,606,748–238,019,834)x3srbd1, prkceagap1, gbx2, asb18, iqca1, cxcr7, cops8, col6a30.54 1.4–/acgh–/acghpatmatprofound id, absent speech, neonatal feeding problems: postnatal failure to thrive, muscular hypotonia, epilepsy, abnormal brain mri: frontal cortical atrophy, eeg: hypsarrhythmia, postnatal microcephaly (−3.84 sd), and scoliosis; dysmorphic features: dolichocephaly, long face, wide-spaced teeth, hypoplastic nails, and cafe-au-lait spots40m9karyotype/fish (22q11.2)2q11.2q12.1 (100,896,293–104,521,737)x3npas2, rpl31, tbc1d8, c2orf29, snord89, rnf149, creg2, rfx8, map4k4, il1r2, il1r1, il1rl2, il1rl1, il18r1, il18rap, slc9a4, slc9a2, mfsd9, tmem182, loc1505683.6–/–unknownborderline intellectual development, autistic-like spectrum symptoms: asperger syndrome, hyperactivity, cleft of soft palate: infancy feeding difficulties, and horseshoe kidney; dysmorphic features: up-slanting palpebral fissures, high palate, hypertelorism dysplastic ears, protruding ears, preauricular dimples, and broad and flat nasal bridge41f7karyotype3q26.1q26.2 (169,023,234–169,652,178)x3serpini1, golim40.62–/–unknownprofound id, absent speech, behavior abnormalities (aggression, hyperactivity), severe postnatal failure to thrive; dysmorphic features: down-slanting palpebral fissures, hypertelorism, low forehead, and hirsutism42f11karyotype3q26.31 (176,602,337–177,202,589)x1naaladl20.6fish/fishpatmild id, bilateral optic nerve atrophy, unilateral aniridia, secondary glaucoma, unilateral cataract, nystagmus.

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