otitis media, Prominent nasal bridge, Pectus excavatum, Delayed closure of the anterior fontanelle, Pulmonic stenosis, Broad foot, Dyscalculia, Finger syndactyly, ...see more Pathogenic (Aug 20, 2016) criteria provided, single submitterGlobal developmental [ncbi.nlm.nih.gov]

Treatment options for hearing loss vary according to type and severity of the loss: in chronic or recurrent otitis media with effusion, myringotomy and pneumatic ear tube insertion are first-line treatments, and if soft tissue fills the middle ear and [nature.com]

[…] dysplasiaPathogenic (Apr 1, 2008) no assertion criteria provided GRCh37: Chr3:178936091 GRCh38: Chr3:179218303 PIK3CA Liver cancer, Megalencephaly cutis marmorata telangiectatica congenita, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck, Keratosis [ncbi.nlm.nih.gov]

muscle weakness, Lower limb pain, Fatty replacement of skeletal muscle, Muscle fiber inclusion bodies ...see more Pathogenic/Likely pathogenic (Jan 1, 2017) criteria provided, single submitter GRCh37: Chr5:148406435 GRCh38: Chr5:149026872 SH3TC2 Charcot-Marie-Tooth [ncbi.nlm.nih.gov]

criteria provided, single submitter GRCh37: Chr1:173800770 GRCh38: Chr1:173831632 DARS2 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation, Talipes equinovarus, Abnormality of the foot, not provided, Hypertension, Dysmetria [ncbi.nlm.nih.gov]

ataxia, Cerebral cortical atrophy, Gait imbalance, Impaired vibration sensation in the lower limbsDifficulty walking, EMG: axonal abnormality, Sensorimotor neuropathy, CNS demyelination, Leukoencephalopathy with brain stem and spinal cord involvement [ncbi.nlm.nih.gov]

carcinoma, Breast adenocarcinoma, Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder, Brainstem glioma, Neoplasm of the large intestine, Carcinoma of esophagus, Sarcoma, Ovarian Neoplasms, Colorectal Neoplasms, Uterine cervical neoplasms [ncbi.nlm.nih.gov]