Disease #00133 (CDLS (Cornelia de Lange syndrome), OMIM:122470)

Official abbreviation CDLS
Name Cornelia de Lange syndrome
OMIM ID 122470
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 0 genes -
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Individuals

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00000704 Z A Bhuiyan et al.(2006) M Kelantan Malay - - - CDLS 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 NIPBL NIPBL 1 1 Nur Aisyah Athirah
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