All individuals with variants in gene SLC1A1

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00039409 Pat22;Pat5 PubMed: Bosch 2016, Journal: Bosch 2016, PubMed: Fregeau 2016 2 generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - - - - - CVI, ID see paper; ..., no intrauterine growth retardation; intellectual disability/developmental delay/autism; seizures; no hypotonia; no behavioral problems; no spastic quadriparesis; no ttention deficit hyperactivity disorder; feeding/swallowing problems; thin corpus callosum; diminished white matter volume; abnormal cerebellar vermis; ventriculomegaly; no small pons; no abnormal hippocampus; no small anterior commissure; no delayed myelination; no coloboma; optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; blepharophimosis; no sensorineural hearing loss; no choanal atresia; no cleft lip; no ventricular septal defect; no patent foramen ovale; no patent ductus arteriosus; no anomalous pulmonary venous return; gastroesophageal reflux disease; no duodenal atresia; no annular pancreas; pyloric hypertrophy; vesicoureteral reflux; no cystic kidney; no hypospadias; no cryptorchidism; no syndactyly; no hip dysplasia; no scoliosis; no lumbar lordosis; tall stature (≥98th centile); no short stature (≤2nd centile); no macrocephaly (≥98th centile); no microcephaly (≤2nd centile); no third fontanel; frontal bossing; no triangular face; no abnormal eyebrows; no hypotelorism; no hypertelorism; no upslanting palpebral fissures; no down-slanting palpebral fissures; no small palpebral fissures; no epicanthal folds; deeply set eyes; blepharaophymosis; abnormal ears; no preauricular pits; bulbous nose; no anteverted nares; no flat philtrum; full lips; no small mouth; no furrowed tongue; abnormal teeth; broad alveolar ridges; high arched palate; no micrognathia; no small nipples; no inverted nipples; no small hands; no syndactyly; no 5th finger clinodactyly; no digital anomalies; no nail hypoplasia; no abnormal palmar creases; no widow’s peak; no sacral hair tuft; no cafe au lait spots 1 1 Danielle Bosch
00050559 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay 1 2 Johan den Dunnen
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