Human (111 sources):
Abnormal cardiovascular system morphology,
Abnormal corpus callosum morphology,
Abnormal electroretinogram,
Abnormal internal genitalia,
Abnormal involuntary eye movements,
Abnormal labia morphology,
Abnormal myelination,
Abnormal scrotum morphology,
Abnormal sex determination,
Abnormal vagina morphology,
Abnormality of coordination,
Abnormality of vision,
Absence of secondary sex characteristics,
Adrenal insufficiency,
Ambiguous genitalia,
Ataxia,
Attention deficit hyperactivity disorder,
Autism,
Axial hypotonia,
Azoospermia,
Babinski sign,
Behavioral abnormality,
Bradykinesia,
Brain atrophy,
Cerebellar atrophy,
Cerebral atrophy,
Clitoral hypertrophy,
Cryptorchidism,
Decreased fertility in females,
Decreased fetal movement,
Decreased serum estradiol,
Decreased serum testosterone concentration,
Decreased testicular size,
Delayed myelination,
Delayed puberty,
Delayed skeletal maturation,
Delayed speech and language development,
Developmental regression,
Difficulty walking,
Downslanted palpebral fissures,
Dysarthria,
Dyskinesia,
EEG with multifocal slow activity,
Elevated circulating follicle stimulating hormone level,
Elevated circulating luteinizing hormone level,
Encephalopathy,
Epileptic encephalopathy,
Failure to thrive,
Feeding difficulties,
Female external genitalia in individual with 46,XY karyotype,
Gait ataxia,
Gastroesophageal reflux,
Gaze-evoked nystagmus,
Generalized hypotonia,
Global developmental delay,
Gonadal dysgenesis,
Gonadoblastoma,
Growth delay,
Gynecomastia,
High forehead,
Hypergonadotropic hypogonadism,
Hyperreflexia,
Hypodontia,
Hypoplasia of penis,
Hypoplasia of the corpus callosum,
Hypoplasia of the vagina,
Hyporeflexia,
Hypospadias,
Hypsarrhythmia,
Impulsivity,
Increased circulating gonadotropin level,
Intellectual disability,
Involuntary movements,
Limb ataxia,
Limb hypertonia,
Male infertility,
Mental deterioration,
Microcephaly,
Micropenis,
Motor delay,
Myoclonus,
Neoplasm,
Nephroblastoma,
Nephrotic syndrome,
Nystagmus,
Optic atrophy,
Osteoporosis,
Ovarian gonadoblastoma,
Poor head control,
Primary amenorrhea,
Primary gonadal insufficiency,
Progressive microcephaly,
Ptosis,
Reduced ejection fraction,
Reduced tendon reflexes,
Retinal degeneration,
Rigidity,
Seizure,
Short stature,
Sparse axillary hair,
Sparse pubic hair,
Spasticity,
Squamous cell carcinoma,
Status epilepticus,
Streak ovary,
Testicular gonadoblastoma,
Tremor,
Unsteady gait,
Urinary bladder sphincter dysfunction,
Urogenital sinus anomaly,
Vanishing testis
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