Details of NIPBL gene in Homo sapiens
Disease |
Disease |
OMIM id |
Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry. |
122470 |
Phenotypes
2-3 toe syndactyly, Abdominal wall defect, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal dermatoglyphics, Abnormal external genitalia, Abnormal hair pattern, Abnormal hair quantity, Abnormal internal genitalia, Abnormality of blood and blood-forming tissues, Abnormality of body height, Abnormality of cardiac ventricle, Abnormality of central motor function, Abnormality of connective tissue, Abnormality of corneal size, Abnormality of dental eruption, Abnormality of eye movement, Abnormality of facial skeleton, Abnormality of female external genitalia, Abnormality of finger, Abnormality of globe location, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of long bone morphology, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of metabolism/homeostasis, Abnormality of mouth shape, Abnormality of muscle morphology, Abnormality of pyramidal motor function, Abnormality of refraction, Abnormality of renal physiology, Abnormality of skeletal maturation, Abnormality of skeletal morphology, Abnormality of skeletal physiology, Abnormality of skin adnexa, Abnormality of skull size, Abnormality of the 5th finger, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the abdominal wall, Abnormality of the anterior segment of the eye, Abnormality of the bladder, Abnormality of the breast, Abnormality of the cardiac septa, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the cervical spine, Abnormality of the choanae, Abnormality of the cornea, Abnormality of the curvature of the cornea, Abnormality of the diaphragm, Abnormality of the digits, Abnormality of the ear, Abnormality of the elbow, Abnormality of the esophagus, Abnormality of the external nose, Abnormality of the eye, Abnormality of the eyebrow, Abnormality of the face, Abnormality of the female genitalia, Abnormality of the foot, Abnormality of the forearm, Abnormality of the forebrain, Abnormality of the fundus, Abnormality of the gastrointestinal tract, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the hairline, Abnormality of the hand, Abnormality of the hard palate, Abnormality of the head, Abnormality of the heart, Abnormality of the humeroradial joint, Abnormality of the inner ear, Abnormality of the integument, Abnormality of the intestine, Abnormality of the joints of the upper limbs, Abnormality of the kidney, Abnormality of the labia, Abnormality of the large intestine, Abnormality of the larynx, Abnormality of the lip, Abnormality of the lower limb, Abnormality of the lower urinary tract, Abnormality of the lung, Abnormality of the male genitalia, Abnormality of the mandible, Abnormality of the middle ear, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nares, Abnormality of the nasal alae, Abnormality of the neck, Abnormality of the nervous system, Abnormality of the nipple, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the optic nerve, Abnormality of the oral cavity, Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the palate, Abnormality of the palm, Abnormality of the palmar creases, Abnormality of the penis, Abnormality of the periorbital region, Abnormality of the philtrum, Abnormality of the posterior segment of the eye, Abnormality of the pylorus, Abnormality of the radial head, Abnormality of the radius, Abnormality of the renal cortex, Abnormality of the renal medulla, Abnormality of the renal tubule, Abnormality of the respiratory system, Abnormality of the ribs, Abnormality of the scalp, Abnormality of the scalp hair, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the sternum, Abnormality of the stomach, Abnormality of the teeth, Abnormality of the testis, Abnormality of the thorax, Abnormality of the thumb, Abnormality of the umbilicus, Abnormality of the upper limb, Abnormality of the upper respiratory tract, Abnormality of the upper urinary tract, Abnormality of the ureter, Abnormality of the urethra, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of the ventricular septum, Abnormality of the vertebral column, Abnormality of the voice, Abnormality of thrombocytes, Abnormality of toe, Abnormality of upper lip, Abnormality of upper lip vermillion, Abnormality of urine homeostasis, Abnormal joint morphology, Abnormal localization of kidneys, Abnormal location of ears, Abnormal nasal morphology, Abnormal palmar dermatoglyphics, Abnormal platelet count, Abnormal renal corticomedullary differentiation, All, Anteverted nares, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia involving bones of the hand, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia involving bones of the thorax, Aplasia/Hypoplasia involving bones of the upper limbs, Aplasia/Hypoplasia involving forearm bones, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the extremities, Aplasia/Hypoplasia of the mandible, Aplasia/Hypoplasia of the nipples, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the sternum, Aplasia of the fingers, Astigmatism, Autosomal dominant inheritance, Choanal atresia, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Cognitive impairment, Coloboma, Congenital abnormal hair pattern, Congenital diaphragmatic hernia, Contractures of the joints of the upper limbs, Cryptorchidism, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Deviation/Displacement of the thumb, Deviation of finger, Deviation of the 5th finger, Deviation of the hand or of fingers of the hand, Dislocated radial head, Displacement of the external urethral meatus, Downturned corners of mouth, Duplication of internal organs, Ectopic kidney, Elbow dislocation, Elbow flexion contracture, Facial hypertrichosis, Flexion contracture, Functional abnormality of the bladder, Functional abnormality of the inner ear, Functional respiratory abnormality, Gastroesophageal reflux, Generalized abnormality of skin, Genital hypoplasia, Growth abnormality, Growth delay, Hearing abnormality, Hearing impairment, Hernia, Hernia of the abdominal wall, Hiatus hernia, High palate, Hirsutism, Hypertonia, Hypertrichosis, Hypoplasia involving bones of the extremities, Hypoplasia involving forearm bones, Hypoplasia of the radius, Hypoplastic genitalia, Hypoplastic labia majora, Hypoplastic male genitalia, Hypoplastic nipples, Hypoplastic radial head, Hypospadias, Inguinal hernia, Intestinal malrotation, Joint dislocation, Labial hypoplasia, Limb joint contracture, Limitation of joint mobility, Limited elbow extension, Limited elbow movement, Long philtrum, Low posterior hairline, Low-set ears, Malformation of the heart and great vessels, Malrotation of colon, Medial flaring of the eyebrow, Microcephaly, Microcornea, Micrognathia, Micromelia, Misalignment of teeth, Mode of inheritance, Morphological abnormality of the central nervous system, Myopia, Narrow palate, Nystagmus, Oligodactyly (hands), Onset and clinical course, Optic atrophy, Optic nerve coloboma, Oral cleft, Otitis media, Phenotypic abnormality, Phenotypic variability, Phocomelia, Pneumonia, Polycystic kidney dysplasia, Proptosis, Proteinuria, Proximal placement of thumb, Ptosis, Pyloric stenosis, Radial deviation of finger, Radial deviation of the hand or of fingers of the hand, Reduced renal corticomedullary differentiation, Regional abnormality of skin, Renal corticomedullary cysts, Renal cysts, Renal hypoplasia, Renal hypoplasia/aplasia, Respiratory tract infection, Seizures, Sensorineural hearing impairment, Short long bones, Short neck, Short stature, Short sternum, Single transverse palmar crease, Strabismus, Structural anomalies of the renal tract, Supernumerary bones of the axial skeleton, Supernumerary ribs, Syndactyly, Synophrys, Thick eyebrow, Thin lips, Thin upper lip vermilion, Thoracoabdominal wall defects, Thrombocytopenia, Toe syndactyly, Vascular skin abnormality, Ventricular septal defect, Vesicoureteral reflux, Weak cry, Widely spaced teeth.