Deafness-enamel hypoplasia-nail defects syndrome
ORPHA:3220Malformation syndromeAutosomal recessiveChildhood
Ассоциированные гены2
Фенотипы (HPO)33
Очень частый (80–99%)18
HP:0001231Abnormal fingernail morphology
HP:0001249Intellectual disability
HP:0003241External genital hypoplasia
HP:0003777Pili torti
HP:0008388Abnormal toenail morphology
HP:0011362Abnormal hair quantity
HP:0045074Thin eyebrow
HP:0100643Abnormality of nail color
HP:0000135Hypogonadism
HP:0000164Abnormality of the dentition
HP:0000365Hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000492Abnormal eyelid morphology
HP:0000534Abnormal eyebrow morphology
HP:0000614Abnormal nasolacrimal system morphology
HP:0000679Taurodontia
HP:0000682Abnormality of dental enamel
HP:0000819Diabetes mellitus
Частый (30–79%)5
HP:0000311Round face
HP:0000786Primary amenorrhea
HP:0001176Large hands
HP:0004322Short stature
HP:0011675Arrhythmia
Периодический (5–29%)10
HP:0000763Sensory neuropathy
HP:0000956Acanthosis nigricans
HP:0001265Hyporeflexia
HP:0002514Cerebral calcification
HP:0002750Delayed skeletal maturation
HP:0008064Ichthyosis
HP:0009830Peripheral neuropathy
HP:0009890High anterior hairline
HP:0010547Muscle flaccidity
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | Worldwide | Family(ies) |
| 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)