Disease #00660 (CDLS4 (Cornelia de Lange syndrome, type 4 (CDLS-4)), OMIM:614701)

Official abbreviation CDLS4
Name Cornelia de Lange syndrome, type 4 (CDLS-4)
OMIM ID 614701
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene RAD21
Associated tissues -
Disease features mild cognitive delay; growth retardation; neuropsychiatric behaviors; microcephaly; craniofacial dysmorphia; cleft/arched palate; organ abnormalitie; no cardiac defects; no limb reductions; no hearing loss; no skin pigmentation abnormalities; no elevated cancer incidence; no bone marrow/hematopoietic defects
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2023-08-31 23:34:34 +02:00 (CEST)


Individuals

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00430270 213171 - - F ? Saudi Arabia - - - - - CDLS4 Neurodevelopmental delay, Butterfly vertebrae, Microcephaly, Single transverse palmar crease, Sandal gap, Patent foramen ovale, Patent ductus arteriosus, Abnormal hip joint morphology, Feeding difficulties in infancy, Choanal atresia, Upslanted palpebral fissure, Low-set, posteriorly rotated ears; mild prenatal growth retardation, microcephaly, intellectual disability, abnormal ear RAD21 RAD21 1 1 Andreas Laner
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