DICER1 is the gene name. PubMed ID, HGCNCID, and Variant: I can't find Inheritance Pattern: autosomal-dominant The disease entity: DICER1 syndrome The type of mutation: germline. Zygosity: not known. Family Information: a family was used, DICER1 carriers, and non DICER1 variant used, some of the family members had tumors from DICER1 Case Information: mean age is 34, the range of age is 18.6 to 43 years, male, and female used, ethnicity can't find Case Presenting HPO: cancer testing, chemotherapy, radiotherapy gnomeAD: 9.2,8.3.2 Mutation type: Pleiotropic, loss of function, missense

HP:0001495

HP_0000729,DOID_2030,HP_0000739,ZP_0005531,SO_1000039

DOID_12849,HP_0000717

• obsolete Peripheral visual field constriction with 30-39 degrees central field preserved
• mixed embryonal carcinoma and endodermal sinus neoplasm with seminoma of the testis

HP_0031638,HP_0011605

• obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)
• Combined hamartoma of the retinal pigment epithelium and retina
• sex-limited autosomal dominant inheritance
• sex-limited autosomal recessive inheritance
• Postoperative
• OperationHistory
• MedicationHistory

• Ulnar deviation of the 4th finger
• Ulnar deviation of the hand or of fingers of the hand
• Ulnar deviation of the 5th finger
• MedicationforEuthanasia
• AntineoplaticDrugAgentTherapy

• Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis
• Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis

• Partial duplication of the middle phalanges of the hand
• Partial duplication of the middle phalanx of the 2nd toe
• Partial duplication of the middle phalanx of the 4th finger
• Partial duplication of the middle phalanx of the 2nd finger
• heteroplasmic mitochondrial inheritance
• sequence_length_variation
• sex-limited autosomal dominant inheritance

• Ulnar deviation of the 4th finger
• Ulnar deviation of the 5th finger
• Supraventricular tachycardia with a concealed accessory pathway on the right free wall

• Triangular shaped proximal phalanx of the 4th finger
• separation anxiety disorder

• Ulnar deviation of the 4th finger
• Ulnar deviation of the 5th finger

• Partial duplication of the middle phalanx of the 4th finger
• Partial duplication of the middle phalanx of the 5th finger
• Rare_or_No_Social_Approaches_of_Showing_and_Directing_Attention

• Ulnar deviation of the 4th finger
• Ulnar deviation of the 5th finger
• sequence_length_variation
• heteroplasmic mitochondrial inheritance
• Definite_unusual_and_marked_resistance_to_trivial_changes_in_the_environment
• Spontaneous_imitation_limited_to_a_few_familiar_routines_that_are_not_incorporated_into_play
• One_or_More_Relationships_That_Involve_Some_Personal_Shared_Activities

• Dense calcifications in the cerebellar dentate nucleus
• Disorganization of the anterior cerebellar vermis
• MedicationforNutrition
• OccupationalTherapy
• Speech_tendsOrTended_to_be_more_repetitive_than_most_subject
• One_or_more_activities_that_subject_has_to_preform_in_a_special_way_if_disrupted_appears_to_be_under_MARKED_pressure

ventriculomegaly