All individuals with variants in gene PSMD12

5 entries on 1 page. Showing entries 1 - 5.
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AscendingIndividual ID     
ID_report     
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Remarks     
Gender     
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Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00081460 - - - M no France white - - - - ID Abnormality of the cardiovascular system (HP:0001626); truncus arteriosus (HP:0001660); Ventricular septal defect (HP:0001652); atrial septal defect (HP:0001631); Hypoplastic aortic arch (HP:0012304); Patent ductus arteriosus (HP:0001643); Abnormality of the kidney (HP:0000077); Crossed fused renal ectopia (HP:0004736); Abnormality of male external genitalia (HP:0000032); Hypospadias (HP:0000047); Abnormality of the upper limb (HP:0002817); Aplasia/Hypoplasia of the thumb (HP:0009601); Intellectual disability (HP:0001249); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Muscular hypotonia (HP:0001252); Behavioral abnormality (HP:0000708); Hearing impairment (HP:0000365); Feeding difficulties (HP:0011968); Abnormality of the eye (HP:0000478); Strabismus (HP:0000486); Abnormality of the outer ear (HP:0000356); Low-set ears (HP:0000369); Posteriorly rotated ears (HP:0000358); Microretrognathia (HP:0000308); Abnormality of the mandible (HP:0000277); Recurrent pneumonia (HP:0006532); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); speech delay (HP:0000750) 1 1 Sébastien Küry
00081461 - - - M no (United States) white - - - - ID Birth length less than 3rd percentile (HP:0003561); Abnormality of the cardiovascular system (HP:0001626); Patent ductus arteriosus (HP:0001643); Abnormality of the kidney (HP:0000077); Fetal pyelectasis (HP:0010945); Abnormality of the ureter (HP:0000069); Urinary retention (HP:0000016); Abnormality of male external genitalia (HP:0000032); Micropenis (HP:0000054); Abnormality of the upper limb (HP:0002817); Aplasia/Hypoplasia of the thumb (HP:0009601); Sacral dimple (HP:0000960); Tracheomalacia (HP:0002779); Laryngeal cleft (HP:0008751); Intellectual disability (HP:0001249); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Behavioral abnormality (HP:0000708); Autistic behavior (HP:0000729); Seizures (HP:0001250); Hearing impairment (HP:0000365); Feeding difficulties (HP:0011968); Abnormality of the eye (HP:0000478); Cortical visual impairment (HP:0100704); Abnormality of the optic nerve (HP:0000587); Abnormality of the outer ear (HP:0000356); Low-set ears (HP:0000369); intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Sébastien Küry
00081462 - - - M no (United States) white - - - - ID Abnormality of the cardiovascular system (HP:0001626); Heart murmur (HP:0030148); Abnormality of male external genitalia (HP:0000032); Intellectual disability (HP:0001249); Delayed speech and language development (HP:0000750); Behavioral abnormality (HP:0000708); Autistic behavior (HP:0000729); intellectual disability (HP:0001249); no motor delay (-HP:0001270), delayed social development (HP:0012434); speech delay (HP:0000750) 1 1 Sébastien Küry
00081463 - - - M no (United States) white - - - - ID Abnormality of male external genitalia (HP:0000032); Cryptorchidism (HP:0000028); Micropenis (HP:0000054); Shawl scrotum (HP:0000049); Intellectual disability (HP:0001249); Muscular hypotonia (HP:0001252); Behavioral abnormality (HP:0000708); Autistic behavior (HP:0000729); Seizures (HP:0001250); Abnormality of the eye (HP:0000478); Impaired smooth pursuit (HP:0007772); Pineal cyst (HP:0012683); Abnormality of the outer ear (HP:0000356); Low-set ears (HP:0000369); Posteriorly rotated ears (HP:0000358); Abnormality of the face (HP:0000271); Facial asymmetry (HP:0000324); Hypertelorism (HP:0000316); Prominent nose (HP:0000448); Cutis marmorata (HP:0000965); Lymphangioma (HP:0100764); intellectual disability (HP:0001249); no motor delay (-HP:0001270); no speech delay (-HP:0000750) 1 1 Sébastien Küry
00234320 - - - M no Italy - 19y - - - MRFACD - 1 1 Pietro Palumbo
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