Distal deletion 12q syndrome
ORPHA:96149Malformation syndromeNeonatal
Фенотипы (HPO)76
Периодический (5–29%)76
HP:0002194Delayed gross motor development
HP:0012368Flat face
HP:0000369Low-set ears
HP:0009437Aplasia/Hypoplasia of the middle phalanx of the 3rd finger
HP:0012741Unilateral cryptorchidism
HP:0004904Maturity-onset diabetes of the young
HP:0000113Polycystic kidney dysplasia
HP:0001611Hypernasal speech
HP:0001999Abnormal facial shape
HP:0001513Obesity
HP:0000248Brachycephaly
HP:0009904Prominent ear helix
HP:0002705High, narrow palate
HP:0000319Smooth philtrum
HP:0001792Small nail
HP:0000280Coarse facial features
HP:0000171Microglossia
HP:0001176Large hands
HP:0001833Long foot
HP:0011407Proportionate tall stature
HP:0000252Microcephaly
HP:0010818Generalized tonic seizure
HP:0001249Intellectual disability
HP:0000819Diabetes mellitus
HP:0004322Short stature
HP:0000752Hyperactivity
HP:0007328Impaired pain sensation
HP:0008770Obsessive-compulsive trait
HP:0000742Self-mutilation
HP:0000086Ectopic kidney
HP:0002893Pituitary adenoma
HP:0000347Micrognathia
HP:0008551Microtia
HP:0002987Elbow flexion contracture
HP:0002751Kyphoscoliosis
HP:0000054Micropenis
HP:0000750Delayed speech and language development
HP:0001510Growth delay
HP:0000260Wide anterior fontanel
HP:0000954Single transverse palmar crease
HP:00046912-3 toe syndactyly
HP:0001643Patent ductus arteriosus
HP:0001655Patent foramen ovale
HP:0005129Congenital hypertrophy of left ventricle
HP:0008499High hypermetropia
HP:0007573Late onset atopic dermatitis
HP:0008513Bilateral conductive hearing impairment
HP:0001531Failure to thrive in infancy
HP:0000506Telecanthus
HP:0009891Underdeveloped supraorbital ridges
HP:0000343Long philtrum
HP:0000161Median cleft lip
HP:0011069Supernumerary tooth
HP:0000256Macrocephaly
HP:0000494Downslanted palpebral fissures
HP:0002021Pyloric stenosis
HP:0000414Bulbous nose
HP:0000463Anteverted nares
HP:0002213Fine hair
HP:0004209Clinodactyly of the 5th finger
HP:0008081Pes valgus
HP:0002032Esophageal atresia
HP:0002247Duodenal atresia
HP:0001734Annular pancreas
HP:0005912Biliary atresia
HP:0002007Frontal bossing
HP:0005819Short middle phalanx of finger
HP:0001845Overlapping toe
HP:0000126Hydronephrosis
HP:0000076Vesicoureteral reflux
HP:0006533Bronchodysplasia
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
HP:0002003Large forehead
HP:0000470Short neck
HP:0010055Broad hallux
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)