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agenesis of corpus callosum, cardiac, ocular, and genital syndrome
auditory system benign neoplasm +
Auriculocondylar Syndrome +
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
Charcot-Marie-Tooth disease +
Congenital Hypomyelinating Neuropathy +
Cyclic Vomiting Syndrome with Neuromuscular Disease
Cyprus Facial Neuromusculoskeletal Syndrome
Ear Deformities, Acquired
Encephalocraniocutaneous Lipomatosis
eye accommodation disease +
eye degenerative disease +
GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy
GSD IV, Neuromuscular Form, Childhood
GSD IV, Neuromuscular Form, Congenital
GSD IV, Neuromuscular Form, Fatal Perinatal
Hereditary Eye Diseases +
Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance
Hernandez Fragoso Syndrome
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS
Lachiewicz Sibley Syndrome
lacrimal apparatus disease +
Mollica-Pavone-Antener Syndrome
NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
neuromuscular junction disease +
Neuromuscular Oculoauditory Syndrome
ocular motility disease +
Ocular Neovascularization +
OTOFACIAL NEURODEVELOPMENTAL SYNDROME
Preauricular Tag, Isolated, Autosomal Dominant, 1
Question Mark Ears, Isolated
Supernumerary Der(22)t(8;22) Syndrome
tarsal-carpal coalition syndrome +
Tympanic Membrane Perforation
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