Ankle swelling, Anorectal anomaly, Anteverted nares, Aplasia/Hypoplasia of the thumb, Arthralgia, Blepharophimosis, Blepharospasm, Brachydactyly, Cachexia, Camptodactyly, Camptodactyly of finger, Carpal osteolysis, Central heterochromia, Chorioretinal coloboma, Cleft palate, Deeply set eye, Downturned corners of mouth, EMG abnormality, Ectopic kidney, Everted lower lip vermilion, External ear malformation, Facial asymmetry, Gait disturbance, Global developmental delay, Hearing impairment, Hypertension, Hypopigmented skin patches, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplastic iris stroma, Impaired ocular abduction, Impaired ocular adduction, Iris coloboma, Irregular hyperpigmentation, Limitation of joint mobility, Low posterior hairline, Metacarpal osteolysis, Metatarsal osteolysis, Microcephaly, Microcornea, Micrognathia, Narrow internal auditory canal, Nephropathy, Nystagmus, Oculomotor nerve palsy, Optic disc hypoplasia, Osteolysis, Osteolysis involving tarsal bones, Osteopenia, Palpebral fissure narrowing on adduction, Patchy hypopigmentation of hair, Pes cavus, Plagiocephaly, Polyhydramnios, Preauricular skin tag, Preaxial hand polydactyly, Proptosis, Proteinuria, Ptosis, Renal insufficiency, Seizure, Sensorineural hearing impairment, Short neck, Short palpebral fissure, Skeletal muscle atrophy, Slender long bone, Spina bifida occulta, Stenosis of the external auditory canal, Strabismus, Talipes equinovarus, Telecanthus, Triangular face, Triphalangeal thumb, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, Webbed neck, Wide nasal bridge, Wrist swelling

abnormal innervation pattern to muscle, abnormal kidney development, abnormal kidney morphology, abnormal membranous labyrinth morphology, abnormal oculomotor nerve morphology, abnormal otic capsule development, abnormal otic vesicle development, abnormal pharyngeal arch development, abnormal podocyte foot process morphology, abnormal podocyte morphology, abnormal renal glomerulus morphology, abnormal renal tubule morphology, abnormal rhombomere 4 morphology, abnormal rhombomere 5 morphology, abnormal rhombomere morphology, absent abducens nerve, absent endolymphatic duct, circling, decreased renal glomerulus number, ectopic bone, ectopic pharyngeal arch, fused podocyte foot processes, fusion of glossopharyngeal and vagus nerve, head tossing, hearing/vestibular/ear phenotype, immune system phenotype, increased circulating creatinine level, increased or absent threshold for auditory brainstem response, increased renal tubule apoptosis, inner ear cyst, kidney hemorrhage, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, perinatal lethality, complete penetrance, podocyte foot process effacement, podocyte microvillus transformation, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, reduced female fertility, reduced male fertility