Microcephalic cortical malformations-short stature due to RTTN deficiency
ORPHA:468631Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)73
Очень частый (80–99%)2
HP:0000252Microcephaly
HP:0001999Abnormal facial shape
Частый (30–79%)10
HP:0000340Sloping forehead
HP:0001511Intrauterine growth retardation
HP:0001525Severe failure to thrive
HP:0002119Ventriculomegaly
HP:0002126Polymicrogyria
HP:0002465Poor speech
HP:0002828Multiple joint contractures
HP:0003510Severe short stature
HP:0010864Intellectual disability, severe
HP:0011344Severe global developmental delay
Периодический (5–29%)61
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000122Unilateral renal agenesis
HP:0000125Pelvic kidney
HP:0000160Narrow mouth
HP:0000278Retrognathia
HP:0000308Microretrognathia
HP:0000315Abnormality of the orbital region
HP:0000319Smooth philtrum
HP:0000358Posteriorly rotated ears
HP:0000426Prominent nasal bridge
HP:0000431Wide nasal bridge
HP:0000520Proptosis
HP:0000543Optic disc pallor
HP:0000582Upslanted palpebral fissure
HP:0000601Hypotelorism
HP:0000609Optic nerve hypoplasia
HP:0000733Abnormal repetitive mannerisms
HP:0000964Eczematoid dermatitis
HP:0001250Seizure
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001272Cerebellar atrophy
HP:0001274Agenesis of corpus callosum
HP:0001276Hypertonia
HP:0001302Pachygyria
HP:0001321Cerebellar hypoplasia
HP:0001339Lissencephaly
HP:0001363Craniosynostosis
HP:0002059Cerebral atrophy
HP:0002079Hypoplasia of the corpus callosum
HP:0002247Duodenal atresia
HP:0002360Sleep abnormality
HP:0002487Hyperkinetic movements
HP:0002518Abnormal periventricular white matter morphology
HP:0002539Cortical dysplasia
HP:0004742Abnormal renal collecting system morphology
HP:0005487Prominent metopic ridge
HP:00056502-5 finger cutaneous syndactyly
HP:0006380Knee flexion contracture
HP:0006466Ankle flexion contracture
HP:0006870Lobar holoprosencephaly
HP:0006872Cerebral hypoplasia
HP:0006955Olivopontocerebellar hypoplasia
HP:0007165Periventricular heterotopia
HP:0007256Abnormal pyramidal sign
HP:0007333Hypoplasia of the frontal lobes
HP:0007633Bilateral microphthalmos
HP:0007843Attenuation of retinal blood vessels
HP:0008619Bilateral sensorineural hearing impairment
HP:0008936Axial hypotonia
HP:0009879Simplified gyral pattern
HP:0009905Thin ear helix
HP:00107054-5 finger syndactyly
HP:0010767Sacrococcygeal pilonidal abnormality
HP:0012110Hypoplasia of the pons
HP:0012294Abnormality of the occipital bone
HP:0030260Microphallus
HP:0100490Camptodactyly of finger
HP:0100702Arachnoid cyst
HP:0100716Self-injurious behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 28 | 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)