Monosomy 22 syndrome
ORPHA:96123Malformation syndromeNeonatal
Фенотипы (HPO)40
Частый (30–79%)21
HP:0000358Posteriorly rotated ears
HP:0000194Open mouth
HP:0000218High palate
HP:0000233Thin vermilion border
HP:0000269Prominent occiput
HP:0000278Retrognathia
HP:0000286Epicanthus
HP:0000343Long philtrum
HP:0000348High forehead
HP:0000445Wide nose
HP:0000470Short neck
HP:0000606Abnormality of the periorbital region
HP:0000664Synophrys
HP:0000954Single transverse palmar crease
HP:0001249Intellectual disability
HP:0002858Meningioma
HP:0004209Clinodactyly of the 5th finger
HP:0012368Flat face
HP:0045025Narrow palpebral fissure
HP:0100008Schwannoma
HP:0100242Sarcoma
Периодический (5–29%)19
HP:0000054Micropenis
HP:0000252Microcephaly
HP:0000975Hyperhidrosis
HP:0001051Seborrheic dermatitis
HP:0001072Thickened skin
HP:0001217Clubbing
HP:0001276Hypertonia
HP:0001386Joint swelling
HP:0001433Hepatosplenomegaly
HP:0004840Hypochromic microcytic anemia
HP:0005272Prominent nasolabial fold
HP:0005359Aplasia of the thymus
HP:0005781Contractures of the large joints
HP:0006101Finger syndactyly
HP:0008066Abnormal blistering of the skin
HP:0008070Sparse hair
HP:0010541Cutis gyrata of scalp
HP:0010785Gonadal neoplasm
HP:0100324Scleroderma
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)