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Schuurs-Hoeijmakers syndrome

MONDO:0014006

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

Also known as: MRD17, SHMS, Schuurs-Hoeijmakers syndrome, autosomal dominant intellectual disability 17, intellectual disability, autosomal dominant type 17, intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome, mental retardation, autosomal dominant type 17, PACS1-related syndrome

33 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodevelopmental disorder (125) Intellectual disability (115) Syndromic disease (24) Human disease (14) Developmental defect during embryogenesis (7) Hereditary neurological disease (5) Disease of genetic or genomic mechanism (2)
Trials to join now! 14 Not yet recruiting 6 Not yet finished but already full! 3 Completed 10
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