Clinical Characteristics

Core features
•    Intellectual disability (mild to moderate, occasionally more severe)
•    Developmental delay (speech and cognitive)
•    Severe proportional short stature
•    Microcephaly
•    Hypogonadism (often hypogonadotropic)

Neurologic / behavioral
•    Learning difficulties
•    Delayed expressive language
•    ADHD and social behavioral difficulties in some patients
•    Autistic features or social avoidance reported

Growth and endocrine
•    Low birth weight
•    Postnatal growth restriction
•    Hypogonadism with low testosterone and low gonadotropins
•    Occasional diabetes mellitus in adulthood

Dysmorphic features
•    Upslanting palpebral fissures
•    Prominent nasal bridge
•    Mild facial dysmorphism

Congenital malformations (variable)
•    Cardiac defects (ASD, VSD, pulmonary artery abnormalities)
•    Skeletal anomalies (e.g., clinodactyly, scoliosis)
•    Gastrointestinal anomalies (rare)
•    Genitourinary abnormalities

Sex differences
•    Males:full syndromic phenotype
•    Females: usually unaffected carriers

Ectodermal / other
•    Hypotonia
•    Recurrent infections (rare)

Ocular
•    None