[{"allergies":[],"date":"2017-05-03T16:33:44.000Z","apgar":{},"notes":{"family_history":"","prenatal_development":"","indication_for_referral":"Proband was a 4-year-old girl from the Philippines. She was born at 39 weeks gestation, with a birthweight 1800g (−4SD). At four years of age, she weighed 4600g (−6SD), was 67cm in height (−10SD), with a head circumference of 37.2cm (−4.5SD). She had sensorineural hearing loss, a ventricular septal defect, and at age 4 was unable to walk or talk. She had arched eyebrows with long eyelashes, sparse scalp hair, a high palate, and posteriorly rotated ears with thickened helices. Her facial features seemed somewhat coarse and included upturned/anteverted nares, a long, smooth philtrum with thin upper lip, and wide downturned mouth.","genetic_notes":"","medical_history":"","diagnosis_notes":""},"ethnicity":{"maternal_ethnicity":["Philipines"],"paternal_ethnicity":["Philipines"]},"date_of_birth":{"month":6,"year":2013},"global_mode_of_inheritance":[],"solved":{"status":"unsolved"},"external_id":"","variants":[],"clinicalStatus":"affected","disorders":[],"features":[{"id":"HP:0001622","label":"Premature birth","type":"prenatal_phenotype","observed":"no"},{"id":"HP:0000154","label":"Wide mouth","type":"phenotype","observed":"yes"},{"id":"HP:0000218","label":"High palate","type":"phenotype","observed":"yes"},{"id":"HP:0000219","label":"Thin upper lip vermilion","type":"phenotype","observed":"yes"},{"id":"HP:0000252","label":"Microcephaly","type":"phenotype","observed":"yes"},{"id":"HP:0000280","label":"Coarse facial features","type":"phenotype","observed":"yes"},{"id":"HP:0000319","label":"Smooth philtrum","type":"phenotype","observed":"yes"},{"id":"HP:0000343","label":"Long philtrum","type":"phenotype","observed":"yes"},{"id":"HP:0000358","label":"Posteriorly rotated ears","type":"phenotype","observed":"yes"},{"id":"HP:0000391","label":"Thickened helices","type":"phenotype","observed":"yes"},{"id":"HP:0000407","label":"Sensorineural hearing impairment","type":"phenotype","observed":"yes"},{"id":"HP:0000463","label":"Anteverted nares","type":"phenotype","observed":"yes"},{"id":"HP:0000527","label":"Long eyelashes","type":"phenotype","observed":"yes"},{"id":"HP:0000750","label":"Delayed speech and language development","type":"phenotype","observed":"yes"},{"id":"HP:0001629","label":"Ventricular septal defect","type":"phenotype","observed":"yes"},{"id":"HP:0002194","label":"Delayed gross motor development","type":"phenotype","observed":"yes"},{"id":"HP:0002209","label":"Sparse scalp hair","type":"phenotype","observed":"yes"},{"id":"HP:0002474","label":"Expressive language delay","type":"phenotype","observed":"yes"},{"id":"HP:0002553","label":"Highly arched eyebrow","type":"phenotype","observed":"yes"},{"id":"HP:0002714","label":"Downturned corners of mouth","type":"phenotype","observed":"yes"},{"id":"HP:0004322","label":"Short stature","type":"phenotype","observed":"yes"},{"id":"HP:0004325","label":"Decreased body weight","type":"phenotype","observed":"yes"},{"id":"HP:0006863","label":"Severe expressive language delay","type":"phenotype","observed":"yes"},{"id":"HP:0011474","label":"Childhood onset sensorineural hearing impairment","type":"phenotype","observed":"yes"},{"id":"HP:0001518","label":"Small for gestational age","type":"prenatal_phenotype","observed":"yes"}],"date_of_death":{},"last_modification_date":"2017-06-13T18:01:58.000Z","nonstandard_features":[{"label":"unable to walk","categories":[{"id":"HP:0011446","label":"Abnormality of higher mental function"}],"type":"phenotype","observed":"yes"}],"prenatal_perinatal_history":{"multipleGestation":false,"icsi":null,"maternal_age":0,"paternal_age":0,"ivf":null,"assistedReproduction_donoregg":null,"assistedReproduction_iui":null,"twinNumber":null,"assistedReproduction_fertilityMeds":null,"gestation":39,"assistedReproduction_surrogacy":null,"assistedReproduction_donorsperm":null},"family_history":{"miscarriages":null,"consanguinity":null,"affectedRelatives":null},"genes":[],"life_status":"alive","sex":"F","clinical-diagnosis":[],"last_modified_by":"Admin","global_age_of_onset":[{"id":"HP:0003577","label":"Congenital onset"}],"report_id":"P0003814"} ,{"allergies":[],"date":"2017-05-03T17:47:06.000Z","apgar":{},"notes":{"family_history":"","prenatal_development":"weight: 3100g\r\nlength: 50.8cm","indication_for_referral":"Proband was a female infant born at 35 weeks gestational age weighing 3100g with a length of 50.8cm to non-consanguineous parents of Northern European descent. She was noted prenatally with ventricular septal defect, polyhydramnios and hydronephrosis, and postnatally had feeding difficulties requiring G-tube placement. Physical exam was significant for fine, arched eyebrows, long eyelashes, slight anteverted nares, broad nasal tip, a high, narrow palate with downturned corners of the mouth, a bifid uvula, somewhat coarse facial features, and retrognathia. She displayed bridged palmar creases bilaterally, as well as small 5th fingernails and absent 5th toenails. She died at 1 year of age after complications from a respiratory infection. A 610K SNP array was normal.","genetic_notes":"","medical_history":"","diagnosis_notes":""},"ethnicity":{"maternal_ethnicity":["Northern European"],"paternal_ethnicity":["Northern European"]},"date_of_birth":{"month":3,"year":2016},"global_mode_of_inheritance":[],"solved":{"status":"unsolved"},"external_id":"","variants":[],"clinicalStatus":"affected","disorders":[],"features":[{"id":"HP:0000193","label":"Bifid uvula","type":"phenotype","observed":"yes"},{"id":"HP:0000278","label":"Retrognathia","type":"phenotype","observed":"yes"},{"id":"HP:0000280","label":"Coarse facial features","type":"phenotype","observed":"yes"},{"id":"HP:0000455","label":"Broad nasal tip","type":"phenotype","observed":"yes"},{"id":"HP:0000463","label":"Anteverted nares","type":"phenotype","observed":"yes"},{"id":"HP:0000527","label":"Long eyelashes","type":"phenotype","observed":"yes"},{"id":"HP:0001629","label":"Ventricular septal defect","type":"phenotype","observed":"yes"},{"id":"HP:0002553","label":"Highly arched eyebrow","type":"phenotype","observed":"yes"},{"id":"HP:0002705","label":"High, narrow palate","type":"phenotype","observed":"yes"},{"id":"HP:0002714","label":"Downturned corners of mouth","type":"phenotype","observed":"yes"},{"id":"HP:0005216","label":"Chewing difficulties","type":"phenotype","observed":"yes"},{"id":"HP:0008398","label":"Hypoplastic fifth fingernail","type":"phenotype","observed":"yes"},{"id":"HP:0011024","label":"Abnormality of the gastrointestinal tract","type":"phenotype","observed":"yes"},{"qualifiers":[{"id":"HP:0012832","label":"Bilateral","type":"laterality"}],"id":"HP:0011310","label":"Bridged palmar crease","type":"phenotype","observed":"yes"},{"id":"HP:0045074","label":"Thin eyebrow","type":"phenotype","observed":"yes"},{"id":"HP:0045075","label":"Sparse eyebrow","type":"phenotype","observed":"yes"},{"qualifiers":[{"id":"HP:0012832","label":"Bilateral","type":"laterality"}],"id":"HP:0200105","label":"Absent fifth toenail","type":"phenotype","observed":"yes"},{"id":"HP:0000126","label":"Hydronephrosis","type":"prenatal_phenotype","observed":"yes"},{"id":"HP:0001561","label":"Polyhydramnios","type":"prenatal_phenotype","observed":"yes"},{"id":"HP:0001622","label":"Premature birth","type":"prenatal_phenotype","observed":"yes"}],"date_of_death":{"month":3,"year":2017},"last_modification_date":"2017-06-13T18:01:59.000Z","nonstandard_features":[],"prenatal_perinatal_history":{"multipleGestation":false,"icsi":null,"maternal_age":0,"paternal_age":0,"ivf":null,"assistedReproduction_donoregg":null,"assistedReproduction_iui":null,"twinNumber":null,"assistedReproduction_fertilityMeds":null,"gestation":35,"assistedReproduction_surrogacy":null,"assistedReproduction_donorsperm":null},"family_history":{"miscarriages":null,"consanguinity":false,"affectedRelatives":null},"genes":[],"life_status":"deceased","sex":"F","clinical-diagnosis":[],"last_modified_by":"Admin","global_age_of_onset":[{"id":"HP:0011461","label":"Fetal onset"}],"report_id":"P0003815"} ,{"allergies":[],"date":"2017-05-03T18:27:14.000Z","apgar":{},"notes":{"family_history":"two unaffected siblings","prenatal_development":"birth weight 3570g\r\nheight at 15 years: <3rd percentile, despite growth hormone treatment","indication_for_referral":"A 25-year-old man was referred to the nephrology clinic for assessment of recently diagnosed hypertension.\r\n\r\nThe patient was born to nonconsanguineous white Caucasian parents and had two unaffected siblings. He was delivered at 40 weeks gestation with a birth weight of 3.57 kg. His post-natal and early development was characterized by markedly poor growth, severe expressive language delay, and conductive hearing impairment. He was noted to have dysmorphic features, including a microcephaly, triangular face, wide mouth, broad nasal bridge, thin lips, short philtrum, long eyelashes, and posteriorly rotated large ears. Karyotype analysis was normal and wrist radiographs were consistent with a two and a half year bone age delay. He was treated with growth hormone therapy with a good initial response. He attended a normal school, but his progress was slow and he required intensive speech therapy. At the age of 15 years his height remained below the 3rd centile and he still displayed paucity of speech, relying more on signing to communicate. He progressed through puberty and growth hormone therapy was discontinued. \r\n\r\nHe currently lives in supervised accommodation and is employed in the retail sector.\r\n","genetic_notes":"","medical_history":"","diagnosis_notes":""},"ethnicity":{"maternal_ethnicity":["Caucasian"],"paternal_ethnicity":["Caucasian"]},"date_of_birth":{"month":5,"year":1991},"global_mode_of_inheritance":[],"solved":{"status":"unsolved"},"external_id":"","variants":[],"clinicalStatus":"affected","disorders":[],"features":[{"id":"HP:0001622","label":"Premature birth","type":"prenatal_phenotype","observed":"no"},{"id":"HP:0000154","label":"Wide mouth","type":"phenotype","observed":"yes"},{"id":"HP:0000233","label":"Thin vermilion border","type":"phenotype","observed":"yes"},{"id":"HP:0000252","label":"Microcephaly","type":"phenotype","observed":"yes"},{"id":"HP:0000322","label":"Short philtrum","type":"phenotype","observed":"yes"},{"id":"HP:0000325","label":"Triangular face","type":"phenotype","observed":"yes"},{"id":"HP:0000358","label":"Posteriorly rotated ears","type":"phenotype","observed":"yes"},{"id":"HP:0000400","label":"Macrotia","type":"phenotype","observed":"yes"},{"id":"HP:0000405","label":"Conductive hearing impairment","type":"phenotype","observed":"yes"},{"id":"HP:0000431","label":"Wide nasal bridge","type":"phenotype","observed":"yes"},{"id":"HP:0000527","label":"Long eyelashes","type":"phenotype","observed":"yes"},{"notes":"2.5 year delay","id":"HP:0000750","label":"Delayed speech and language development","type":"phenotype","observed":"yes"},{"id":"HP:0001510","label":"Growth delay","type":"phenotype","observed":"yes"},{"id":"HP:0002474","label":"Expressive language delay","type":"phenotype","observed":"yes"},{"id":"HP:0002750","label":"Delayed skeletal maturation","type":"phenotype","observed":"yes"},{"id":"HP:0006863","label":"Severe expressive language delay","type":"phenotype","observed":"yes"}],"date_of_death":{},"last_modification_date":"2017-06-13T18:02:00.000Z","nonstandard_features":[],"prenatal_perinatal_history":{"multipleGestation":false,"icsi":null,"maternal_age":0,"paternal_age":0,"ivf":null,"assistedReproduction_donoregg":null,"assistedReproduction_iui":null,"twinNumber":null,"assistedReproduction_fertilityMeds":null,"gestation":null,"assistedReproduction_surrogacy":null,"assistedReproduction_donorsperm":null},"family_history":{"miscarriages":null,"consanguinity":false,"affectedRelatives":null},"genes":[],"life_status":"alive","sex":"M","clinical-diagnosis":[],"last_modified_by":"Admin","global_age_of_onset":[],"report_id":"P0003816"} ,{"allergies":[],"date":"2017-05-03T18:42:29.000Z","apgar":{},"notes":{"family_history":"","prenatal_development":"","indication_for_referral":"This male patient was born to nonconsanguineous Japanese parents at 38 weeks of gestation. His parents and sister were clinically normal. At birth, his body length and weight were \u2013 3 SD from the norm. His expressive language development was severely delayed (only a few words spoken at 5 years of age). At 8 years of age, the patient underwent detailed clinical evaluation for severe short stature. He showed proportionate short stature with a height of 99.6 cm (-4.9 SD) and weight of 13.9 kg (-2.4 SD). He exhibited dysmorphic facial appearance, including a wide mouth, short philtrum, thin vermilion of the upper lip, wide nasal bridge, short palpebral fissures, malocclusion with small teeth, triangular facies, and low-set and posteriorly rotated ears. Physical examinations revealed microcephaly, short neck and small hands and feet. Hand roentgenograms showed severely retarded bone age. Ultrasonography detected no abnormality in the kidney. Biochemical and endocrine studies showed no abnormalities except for hypouricemia caused by hyperuricosuria (serum uric acid, 1.7 mg/dl; normal range 3.7\u20137.5 mg/dl, fractional excretion of uric acid, 18%; normal range 5\u201315%). Bone age development markedly accelerated from 9 years of age and reached a nearly adult level when the patient was 13 years of age. His nearly final height at 14 years of age was 137 cm (-3.6 SD). He attended a special educational program in a junior high school and had mild behavior and emotional problems.","genetic_notes":"","medical_history":"","diagnosis_notes":""},"ethnicity":{"maternal_ethnicity":["Japanese"],"paternal_ethnicity":["Japanese"]},"date_of_birth":{"month":2,"year":2002},"global_mode_of_inheritance":[],"solved":{"status":"unsolved"},"external_id":"","variants":[],"clinicalStatus":"affected","disorders":[],"features":[{"id":"HP:0001622","label":"Premature birth","type":"prenatal_phenotype","observed":"no"},{"id":"HP:0000154","label":"Wide mouth","type":"phenotype","observed":"yes"},{"id":"HP:0000219","label":"Thin upper lip vermilion","type":"phenotype","observed":"yes"},{"id":"HP:0000252","label":"Microcephaly","type":"phenotype","observed":"yes"},{"id":"HP:0000322","label":"Short philtrum","type":"phenotype","observed":"yes"},{"id":"HP:0000325","label":"Triangular face","type":"phenotype","observed":"yes"},{"id":"HP:0000358","label":"Posteriorly rotated ears","type":"phenotype","observed":"yes"},{"id":"HP:0000369","label":"Low-set ears","type":"phenotype","observed":"yes"},{"id":"HP:0000431","label":"Wide nasal bridge","type":"phenotype","observed":"yes"},{"id":"HP:0000470","label":"Short neck","type":"phenotype","observed":"yes"},{"id":"HP:0000689","label":"Dental malocclusion","type":"phenotype","observed":"yes"},{"id":"HP:0000691","label":"Microdontia","type":"phenotype","observed":"yes"},{"id":"HP:0000708","label":"Behavioral abnormality","type":"phenotype","observed":"yes"},{"id":"HP:0000750","label":"Delayed speech and language development","type":"phenotype","observed":"yes"},{"qualifiers":[{"id":"HP:0012832","label":"Bilateral","type":"laterality"}],"id":"HP:0001773","label":"Short foot","type":"phenotype","observed":"yes"},{"id":"HP:0002474","label":"Expressive language delay","type":"phenotype","observed":"yes"},{"qualifiers":[{"id":"HP:0012828","label":"Severe","type":"severity"}],"id":"HP:0002750","label":"Delayed skeletal maturation","type":"phenotype","observed":"yes"},{"notes":"Serum uric acid 1.7mg/dl (normal range 3.7-7.5)\r\nFractional excretion of uric acid: 18% (normal range 5-15%)","id":"HP:0003149","label":"Hyperuricosuria","type":"phenotype","observed":"yes"},{"id":"HP:0004322","label":"Short stature","type":"phenotype","observed":"yes"},{"id":"HP:0004325","label":"Decreased body weight","type":"phenotype","observed":"yes"},{"id":"HP:0006863","label":"Severe expressive language delay","type":"phenotype","observed":"yes"},{"id":"HP:0012745","label":"Short palpebral fissure","type":"phenotype","observed":"yes"},{"qualifiers":[{"id":"HP:0012832","label":"Bilateral","type":"laterality"}],"id":"HP:0200055","label":"Small hand","type":"phenotype","observed":"yes"},{"id":"HP:0001518","label":"Small for gestational age","type":"prenatal_phenotype","observed":"yes"},{"id":"HP:0003561","label":"Birth length less than 3rd percentile","type":"prenatal_phenotype","observed":"yes"}],"date_of_death":{},"last_modification_date":"2017-06-13T18:02:01.000Z","nonstandard_features":[],"prenatal_perinatal_history":{"multipleGestation":false,"icsi":null,"maternal_age":0,"paternal_age":0,"ivf":null,"assistedReproduction_donoregg":null,"assistedReproduction_iui":null,"twinNumber":null,"assistedReproduction_fertilityMeds":null,"gestation":null,"assistedReproduction_surrogacy":null,"assistedReproduction_donorsperm":null},"family_history":{"miscarriages":null,"consanguinity":false,"affectedRelatives":false},"genes":[],"life_status":"alive","sex":"M","clinical-diagnosis":[],"last_modified_by":"Admin","global_age_of_onset":[],"report_id":"P0003817"} ,{"allergies":[],"date":"2017-05-03T20:24:53.000Z","apgar":{},"notes":{"family_history":"","prenatal_development":"","indication_for_referral":"The proband is a 2.5 year old male who has been followed in Genetics since birth. Microcephaly was first noted at 23 weeks gestation and is currently -6SD (progressive). Other issues include developmental delay, tracheoesophageal fistula, left choanal atresia. He was born with cardiac concerns including moderate atrial septal defect. Triphalangeal thumb, low-set posteriorly rotated ears, ear tags, micrognathia were also noted on physical exam.","genetic_notes":"","medical_history":"","diagnosis_notes":""},"ethnicity":{"maternal_ethnicity":[],"paternal_ethnicity":[]},"date_of_birth":{"month":12,"year":2013},"global_mode_of_inheritance":[],"solved":{"status":"unsolved"},"external_id":"","variants":[],"clinicalStatus":"affected","disorders":[],"features":[{"id":"HP:0000252","label":"Microcephaly","type":"phenotype","observed":"yes"},{"notes":"-6SD at 2.5y","id":"HP:0000253","label":"Progressive microcephaly","type":"phenotype","observed":"yes"},{"id":"HP:0000347","label":"Micrognathia","type":"phenotype","observed":"yes"},{"id":"HP:0000358","label":"Posteriorly rotated ears","type":"phenotype","observed":"yes"},{"id":"HP:0000369","label":"Low-set ears","type":"phenotype","observed":"yes"},{"id":"HP:0000453","label":"Choanal atresia","type":"phenotype","observed":"yes"},{"id":"HP:0001199","label":"Triphalangeal thumb","type":"phenotype","observed":"yes"},{"id":"HP:0001631","label":"Atrial septal defect","type":"phenotype","observed":"yes"},{"qualifiers":[{"id":"HP:0012835","label":"Left","type":"laterality"}],"id":"HP:0002575","label":"Tracheoesophageal fistula","type":"phenotype","observed":"yes"},{"id":"HP:0011451","label":"Congenital microcephaly","type":"phenotype","observed":"yes"}],"date_of_death":{},"last_modification_date":"2017-06-13T18:02:01.000Z","nonstandard_features":[{"label":"developmental delay","categories":[{"id":"HP:0011446","label":"Abnormality of higher mental function"}],"type":"phenotype","observed":"yes"}],"prenatal_perinatal_history":{"multipleGestation":null,"icsi":null,"maternal_age":0,"paternal_age":0,"ivf":null,"assistedReproduction_donoregg":null,"assistedReproduction_iui":null,"twinNumber":null,"assistedReproduction_fertilityMeds":null,"gestation":null,"assistedReproduction_surrogacy":null,"assistedReproduction_donorsperm":null},"family_history":{"miscarriages":null,"consanguinity":null,"affectedRelatives":null},"genes":[],"life_status":"alive","sex":"M","clinical-diagnosis":[],"last_modified_by":"Admin","global_age_of_onset":[{"id":"HP:0011461","label":"Fetal onset"}],"report_id":"P0003818"} ,{"allergies":[],"date":"2017-05-03T20:31:37.000Z","apgar":{},"notes":{"family_history":"","prenatal_development":"","indication_for_referral":"The proband was a female born in March 2006 and seen in Genetics in January 2009. At the time of the appointment her height was 87cm, her weight was 13.4 kg and her head circumference was 43.5 cm. She was noted to have multiple issues including, cleft palate, developmental delay, ventricular septal defect, choanal atresia,and febrile seizures. Other features included, 11 pairs of ribs and micrognathia. Abnormal ear architecture was also observed with absence of the antihelix and ear tags. External auditory canal atresia was also noted. Microcephaly was noted to be progressive on subsequent visits.","genetic_notes":"","medical_history":"","diagnosis_notes":""},"ethnicity":{"maternal_ethnicity":[],"paternal_ethnicity":[]},"date_of_birth":{"month":3,"year":2006},"global_mode_of_inheritance":[],"solved":{"status":"unsolved"},"external_id":"","variants":[],"clinicalStatus":"affected","disorders":[],"features":[{"id":"HP:0000175","label":"Cleft palate","type":"phenotype","observed":"yes"},{"id":"HP:0000252","label":"Microcephaly","type":"phenotype","observed":"yes"},{"id":"HP:0000253","label":"Progressive microcephaly","type":"phenotype","observed":"yes"},{"id":"HP:0000347","label":"Micrognathia","type":"phenotype","observed":"yes"},{"id":"HP:0000413","label":"Atresia of the external auditory canal","type":"phenotype","observed":"yes"},{"id":"HP:0000453","label":"Choanal atresia","type":"phenotype","observed":"yes"},{"id":"HP:0000921","label":"Missing ribs","type":"phenotype","observed":"yes"},{"id":"HP:0001250","label":"Seizures","type":"phenotype","observed":"yes"},{"id":"HP:0001629","label":"Ventricular septal defect","type":"phenotype","observed":"yes"},{"id":"HP:0002373","label":"Febrile seizures","type":"phenotype","observed":"yes"},{"id":"HP:0004322","label":"Short stature","type":"phenotype","observed":"yes"},{"id":"HP:0011234","label":"Absent antihelix","type":"phenotype","observed":"yes"},{"id":"HP:0030021","label":"Auricular tag","type":"phenotype","observed":"yes"}],"date_of_death":{},"last_modification_date":"2017-06-13T18:02:02.000Z","nonstandard_features":[{"label":"develomental delay","categories":[{"id":"HP:0011446","label":"Abnormality of higher mental function"}],"type":"phenotype","observed":"yes"}],"prenatal_perinatal_history":{"multipleGestation":null,"icsi":null,"maternal_age":0,"paternal_age":0,"ivf":null,"assistedReproduction_donoregg":null,"assistedReproduction_iui":null,"twinNumber":null,"assistedReproduction_fertilityMeds":null,"gestation":null,"assistedReproduction_surrogacy":null,"assistedReproduction_donorsperm":null},"family_history":{"miscarriages":null,"consanguinity":null,"affectedRelatives":null},"genes":[],"life_status":"alive","sex":"F","clinical-diagnosis":[],"last_modified_by":"Admin","global_age_of_onset":[],"report_id":"P0003819"} ,{"allergies":[],"date":"2017-05-03T20:39:30.000Z","apgar":{},"notes":{"family_history":"parents are second cousins","prenatal_development":"birth weight: 2850g","indication_for_referral":"A 7-year-old girl accompanied by parents reported to the faculty of Dentistry, with a complaint of caries and dental crowding. She is the second child of a second cousin consanguineous couple. Her older sister had no signs of dental anomalies. The patient was born at term, weighing 2 kg 850 g.\r\nThe following clinical extraoral findings were observed: short stature with broad thumbs and great toes, severe intellectual delay, down slant of the palpebral fissures, strabismus and low set ears. The nose has a large and beaked appearance, broad fleshy bridge, deviated septum, and she had mild scoliosis and a ventricular septal defect.","genetic_notes":"","medical_history":"","diagnosis_notes":""},"ethnicity":{"maternal_ethnicity":[],"paternal_ethnicity":[]},"date_of_birth":{"month":4,"year":2010},"global_mode_of_inheritance":[],"solved":{"status":"unsolved"},"external_id":"","variants":[],"clinicalStatus":"affected","disorders":[],"features":[{"id":"HP:0001622","label":"Premature birth","type":"prenatal_phenotype","observed":"no"},{"id":"HP:0000369","label":"Low-set ears","type":"phenotype","observed":"yes"},{"id":"HP:0000431","label":"Wide nasal bridge","type":"phenotype","observed":"yes"},{"id":"HP:0000486","label":"Strabismus","type":"phenotype","observed":"yes"},{"id":"HP:0000494","label":"Downslanted palpebral fissures","type":"phenotype","observed":"yes"},{"id":"HP:0000670","label":"Carious teeth","type":"phenotype","observed":"yes"},{"id":"HP:0000678","label":"Dental crowding","type":"phenotype","observed":"yes"},{"id":"HP:0001629","label":"Ventricular septal defect","type":"phenotype","observed":"yes"},{"id":"HP:0002650","label":"Scoliosis","type":"phenotype","observed":"yes"},{"id":"HP:0003683","label":"Large beaked nose","type":"phenotype","observed":"yes"},{"id":"HP:0004322","label":"Short stature","type":"phenotype","observed":"yes"},{"id":"HP:0004411","label":"Deviated nasal septum","type":"phenotype","observed":"yes"},{"id":"HP:0010055","label":"Broad hallux","type":"phenotype","observed":"yes"},{"id":"HP:0010864","label":"Intellectual disability, severe","type":"phenotype","observed":"yes"},{"id":"HP:0011304","label":"Broad thumb","type":"phenotype","observed":"yes"},{"id":"HP:0001518","label":"Small for gestational age","type":"prenatal_phenotype","observed":"yes"}],"date_of_death":{},"last_modification_date":"2017-06-13T18:02:03.000Z","nonstandard_features":[],"prenatal_perinatal_history":{"multipleGestation":false,"icsi":null,"maternal_age":0,"paternal_age":0,"ivf":null,"assistedReproduction_donoregg":null,"assistedReproduction_iui":null,"twinNumber":null,"assistedReproduction_fertilityMeds":null,"gestation":40,"assistedReproduction_surrogacy":null,"assistedReproduction_donorsperm":null},"family_history":{"miscarriages":null,"consanguinity":true,"affectedRelatives":null},"genes":[],"life_status":"alive","sex":"F","clinical-diagnosis":[],"last_modified_by":"Admin","global_age_of_onset":[],"report_id":"P0003820"} ,{"allergies":[],"date":"2017-05-03T20:47:49.000Z","apgar":{},"notes":{"family_history":"","prenatal_development":"birth weight: 1900g\r\nbirth length: 47cm","indication_for_referral":"The proband, a 23-year-old Brazilian female patient, is the third child of healthy, non-consanguineous parents. Her birth weight was 1,900 g, the length was 47 cm, the occipitofrontal circumference (OFC) was 36 cm. Developmental milestones were delayed: she sat without support at the age of 1, walked at 2.5 years and acquired control of the bowels at age 4. She spoke only a few meaningful words at the age of eighteen. The feeding problems were noted in infancy.\r\nA physical examination at 23 years of age showed a weight of 61 kg (75