overgrowth Long eyelashes Hypoplasia of the maxilla Shawl scrotum Rib fusion Rectovaginal fistula Abnormal hair pattern Beaking of vertebral bodies Neurodevelopmental delay Sprengel anomaly Overlapping toe Abnormal vertebral morphology Vertebral fusion [mendelian.co]

muscle weakness Functional respiratory abnormality Head tremor Spherocytosis Diaphragmatic eventration Birth length greater than 97th percentile Slender toe Respiratory failure requiring assisted ventilation Hepatic hemangioma Peripheral neuropathy Edema [mendelian.co]

eyelashes Hemivertebrae Vesicoureteral reflux Highly arched eyebrow Pectoralis hypoplasia Hernia Brachycephaly Poliosis Upslanted palpebral fissure Bull's eye maculopathy Bifid ribs Cerebral cortical atrophy Hyporeflexia Hypothyroidism Midface retrusion [mendelian.co]

[…] stenosis Ulnar deviation of the hand or of fingers of the hand Oculomotor nerve palsy Thyroid hypoplasia Excessive daytime somnolence Cavum septum pellucidum Overlapping fingers Small placenta Microglossia Microdontia of primary teeth Relative macrocephaly Hyperhidrosis [mendelian.co]

wrinkled skin Craniofacial dysostosis Abnormality of the sacroiliac joint Decreased liver function Waddling gait Hemangioma Nephrocalcinosis Accelerated skeletal maturation EMG abnormality Narrow face Nephrolithiasis Abnormal bleeding Gait disturbance [mendelian.co]

[…] thrive Villous atrophy Hypertensive crisis Self-mutilation Impaired ocular abduction Cerebellar vermis hypoplasia Sparse and thin eyebrow Thoracic dysplasia Conical tooth Broad philtrum Hyperextensibility of the finger joints Tall stature Intention tremor [mendelian.co]

hypotonia Fatigable weakness Lower limb muscle weakness Stillbirth Areflexia of lower limbs Falls Urinary incontinence Open mouth Frequent falls Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Ophthalmoparesis Easy fatigability [mendelian.co]

calcification Mandibular prognathia Akinesia Acanthosis nigricans Congenital contracture Abnormal facial shape Cavernous hemangioma Large for gestational age Centrally nucleated skeletal muscle fibers Severe muscular hypotonia Generalized amyotrophy [mendelian.co]