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Unusual Behavior Hypoplasia of Corpus Callosum Onset of Ataxia in the Fifties Caused by Mutation in the Synaptotagmin 14 Gene Ambulation Is Usually Maintained during Adulthood Mutation in the Cytoplasmic Dynein 1, Heavy Chain 1 Gene Sural Nerve Biopsy Shows Axonal Degenerative Process Variable Distal Sensory Impairment Defective Urinary Concentration Interstitial Nephropathy Supravalvular Pulmonic Stenosis Vascular Sheathing Retinal and-or Subretinal Pigmentary Changes Hemorrhage beneath Internal Limiting Membrane Exudative Maculopathy Retinal Arterial Beading Along All 4 Retinal Arterial Trunks Prominent Veins on Scalp, Trunk, and/or Extremities Interdigital Webbing Shortened Digits Congenital Vitreoretinal Abnormalities Rod Dystrophy Bitemporal Depression Lymphedema of Upper and/or Lower Extremity Retrocerebellar Cyst Mild Asymmetric Cerebellar Hypoplasia Cerebral Atrophy Dilation of Cerebral Ventricles Calcification of Cerebral Ventricles Equinus Deformities Ulceration and Amputation of the Toes due to Sensory Loss Ulceration and Amputation of the Fingers due to Sensory Loss Paralysis of the Lower Limbs Distal Weakness - Upper and Lower Limbs Distal Leg Muscle Atrophy Spontaneous Pain Panmodal Distal Sensory Loss High Frequencies Affected before Low Frequencies Postlingual Onset in Second to Third Decades Fleshy Lips Fleshy Tipped Nose Transverse Chest Groove Square Shoulders Mutation in the Interleukin 36 Receptor Antagonist Gene Parakeratosis in Stratum Corneum Elongation of Rete Ridges Spongiform Pustules Incomplete, Age-Associated Penetrance Mean Age of Onset 50 to 52 Years Mutation in the Mannosidase Alpha Class 1B Member 1 Gene Triangular Chin Mild Dolichocephaly Defective Platelet-Binding to Collagen Platelet Expression of GP6 Decreased Postsurgical Bleeding Mild Bleeding Mild Disorder Defective Adhesion of Platelets to Collagen and Subendothelium Platelets Show Decreased GPIa-GPIIa Surface Complex Mild Alpha Granule Deficiency Variable Response to Steroid Treatment End-Stage Renal Failure May Occur Rare Mesangial IgM Deposition Attenuation of the Glomerular Basement Membrane Microvillus Transformation of Podocytes Swollen Podocytes Effacement of Podocyte Foot Processes Minimal Change Disease on Renal Biopsy Tubulointerstitial Atrophy Possibly Crouzon-Like Appearance Dysplastic Fingernails Mild Syndactyly of Second and Third Toes Short Phalanges Coronal Suture Synostosis Metopic Suture Synostosis Ectopic Eruption Exorbitism Sloping or Flat Forehead Vertical Crease in Fourth Interdigital Space Transverse Distal Crease Across Palm Punctal Pits Bilateral Preauricular Sinus Shawl Scrotum Progressive Valvular Thickening Laryngeal Stenosis or Insufficiency Lysosomal-Like Storage Vacuoles in Various Tissues Short Nose 'Happy' Face Onset in the 3rd Decade of Life or Later Attenuated Vessels Visual Acuity Relatively Preserved Visual Field Defects Mutation in the B9D2 Gene Persistence of Bile Duct Remnants Mutation in the Tectonic Family Member 1 Gene Frontotemporal Pachygyria Molar Tooth Sign on Brain MRI Caused by Mutation in the Palladin Gene Pigment Relative to Ethnic Background Reduced Absent Platelet Delta Granules Hyperelasticity