Phenotypes for disease #00133 (CDLS (Cornelia de Lange syndrome), OMIM:122470)

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Individual ID     
0000000249 Gestation:38 weeks, Birth Weight:2.2 kg, Prenatal growth retardation, Postnatal growth retardation, Microcephaly, Severely impaired cognitive functioning, Hirsutism, Low posterior hairline, Synophrys, Long, curly eyelashes, Depressed nasal bridge, Long philtrum, Downturned angles of mouth, Thin upper vermillion border, Widely-spaced teeth, Highly-arched palate, Micrognathia, Low-set ears, Small hands, Limb reduction (absence of two fingers), Single palmar crease, Cutis marmorata, Short neck, Hypoplastic nipples, Small umbilicus, Cardiac defect (ventricular septal defect), Small genitalia, Hypospadias, Cryptorchidism, Inguinal hernia, GI reflux, Splenic cyst, Neurosensory deafness - Nur Aisyah Athirah 00000704
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