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Microcephaly with or without short stature

MONDO:0100346

Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have intellectual disability, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. These clinical features include Seckel syndrome, a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with intellectual disability.

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

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Sub-types

Microcephaly 6, primary, autosomal recessive (7) Microcephaly 6 with or without short stature (0) Seckel syndrome 4 (0)

Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodevelopmental disorder (125) Human disease (14) Hereditary neurological disease (5) Autosomal recessive disease (4) Microcephaly (3) Disease of genetic or genomic mechanism (2) Autosomal genetic disease (0)
Trials to join now! 16 Not yet recruiting 6 Not yet finished but already full! 3 Completed 5
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