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Caused by Mutation in the Ventral Anterior Homeobox-1 Gene Bilateral Cleft Palate Bilateral Small Optic Nerve Severe Bilateral Microphthalmia Head Circumference <3rd Percentile Height in Third Centile Vertical Orientation of Hippocampus Some Patients May Not Achieve Walking Death May Occur in Childhood due to Respiratory Failure Focal Z-Band Disarray Devoid of Mitochondria (EM) Minicores Myopathic Changes in Affected Muscle (EMG) Some May Not Achieve Ambulation Described in Families from Galicia, Spain Gaze Limitation Horizontal Gaze Nystagmus Hearing Loss Progressive Chronic Denervation Seen on Skeletal Muscle Biopsy Distal Skeletal Muscle Atrophy (Late Symptom) Fasciculations (Late Symptom) Dystrophy of Free Margin of Fingernails Onycholysis of Fingernails Peripheral Pulmonary Stenosis Death in Childhood May Occur Due to Infection Normal Numbers of Absolute B Cells Genu Recurvatum Joint Hyperlaxity Mutation in the Hepatic Lipase Gene Mutation in the MER Tyrosine Kinase Protooncogene Autofluorescent Dots in Posterior Pole Electroretinographic Responses Decreased or Non-Recordable Thinning of the Photoreceptor Layer (OCT) Wrinkled Appearance of Inner Retina High Reflectivity of Fundus Pigment Mottling in Mid Periphery Bone Spicule Pigment Depositions Intraretinal Pigment Deposition Extending to Posterior Pole Bull's Eye Macular Retinal Pigment Epithelium Changes Color Vision Deficits Mutation in the Gene Encoding Alpha B Crystallin Complete Cataract Nuclear Cataract Posterior Polar Cataract Mutation in the NRL Gene Non-Detectable ERG, All Components (Older Individuals) Asymptomatic Photopic Visual Field Defects Progressive Peripapillary Chorioretinal Atrophy Optic Disc Pallor in Fourth Decade of Life Pigmentation in Retinal Periphery Visual Acuity in Fourth Decade of Life Decreased Night Blindness with Onset in 1st-2nd Decade of Life Contiguous Gene Deletion of 12 Mb Encompassing 47 Genes on 1p32-p31 Dysplastic Helices Death Usually Occurs in Early Infancy Mutation in the JAM3 Gene Cystic Renal Dysplasia Atrophic Pons Subependymal Calcifications Porencephalic Changes Cystic Destruction of Brain Tissue Including Basal Ganglia Multifocal Intraparenchymal Brain Hemorrhage Onset in Adolescence or Young Adulthood Caused by Mutation in the Anoctamin 10 Gene Tortuous Conjunctival Vessels Mild Atrophy of the Proximal Lower Limbs Cerebellar Atrophy Severe Adults May Lose Ability to Walk Rapid Progression in Adolescence Late-Onset Contractures Multifocal Discharges Discharges Migrating between Cortical Regions EEG Generalized Slowing Seizures Are Refractory to Treatment Seizure Frequency Decreases during Early Childhood Multiple Seizures Daily at Onset Posterior White Matter Volume Reduced Generalized Stiffening Allelic to Spastic Paraplegia Type 3 Mutation in the Atlastin 1 Gene Mild Pes Cavus Lancinating Pain Reflexes May be Decreased, Normal or Increased Spasticity in Infancy Upper Motor Involvement Square Distal Fingertips Long Columella Extending below the Alae Nasi Normal Palpebral Fissures Mildly Downslanting Palpebral Fissures Heavy Arched Eyebrows Possibly Mild Manifestations in Heterozygote Carriers Mutation in the Coagulation Factor II Gene F2 Activity Decreased F2 Antigen Levels Decreased Onset in Utero or in Infancy Mutation in the SRY Box 17 Gene Duplication of the Renal Pelvis Mutation in the KLF1 Gene Erythroblasts Show Atypical Cytoplasmic Inclusions Bone Marrow Smear Shows Erythroid Hyperplasia Expression of CD44 and AQP1 on Erythrocytes Decreased