German syndrome
ORPHA:2077Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)32
Очень частый (80–99%)21
HP:0000194Open mouth
HP:0000232Everted lower lip vermilion
HP:0000248Brachycephaly
HP:0000268Dolichocephaly
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000431Wide nasal bridge
HP:0000486Strabismus
HP:0000534Abnormal eyebrow morphology
HP:0001004Lymphedema
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001376Limitation of joint mobility
HP:0002015Dysphagia
HP:0002167Abnormality of speech or vocalization
HP:0002375Hypokinesia
HP:0002804Arthrogryposis multiplex congenita
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0011800Midface retrusion
Частый (30–79%)6
HP:0000202Orofacial cleft
HP:0000218High palate
HP:0000364Hearing abnormality
HP:0000470Short neck
HP:0000664Synophrys
HP:0100490Camptodactyly of finger
Периодический (5–29%)5
HP:0000028Cryptorchidism
HP:0000062Ambiguous genitalia
HP:0000494Downslanted palpebral fissures
HP:0001636Tetralogy of Fallot
HP:0001671Abnormal cardiac septum morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)