[…] hyperlaxity syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-pseudoglioma syndrome Osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerosis-ichthyosis-premature ovarian failure syndrome Otopalatodigital syndrome [se-atlas.de]

crawling, walking, sitting), displacement of the lens of the eye (ectopia lentis), abnormal thinning and weakness of the bones (osteoporosis and scoliosis ), and/or the formation of blood clots (thrombi) in various veins and arteries that may lead [apraxia-kids.org]

Skeletal Osteoporosis-pseudoglioma syndrome (OPPG) Skeletal Patella malformation syndrome Skeletal Polysyndactyly Skeletal Primary hypertrophic osteoarthropathy Skeletal Proximal symphalangism (SYM1) Skeletal Pycnodysostosis Skeletal Robinow syndrome [genomediagnosticsnijmegen.nl]

Bone Mineral Density Quantitative Trait Locus Osteoporosis, Involutional Osteoporosis, Postmenopausal BMND 166710 Genetic Test Registry Osteoporosis-Pseudoglioma Syndrome Osteogenesis Imperfecta, Ocular Form OPPG OPS 259770 Genetic Test Registry Otopalatodigital [ukgtn.nhs.uk]

The osteoporosis was marked. [journals.lww.com]

Neurological Neurodegeneration with brain iron accumulation Neurological Neuropathies (WES) Neurological Parkinson disease (WES) Neurological Parkinson's disease Neurological Paroxysmal extreme pain disorder Neurological Polymicrogyria Neurological Polyneuropathy [genomediagnosticsnijmegen.nl]

[…] type Poland syndrome Polydactyly of a biphalangeal thumb Polydactyly of a triphalangeal thumb Polydactyly of an index finger Polydactyly-myopia syndrome Polymicrogyria Polymicrogyria due to TUBB2B mutation Polymicrogyria with optic nerve hypoplasia Polyneuropathy-intellectual [se-atlas.de]

Neurological Dystonia, dopamine responsive Neurological Epilepsy (WES) Neurological Epilepsy with neurodevelopmental defects (EPND) Neurological Epilepsy, Idiopathic Neurological Epilepsy, myoclonic Neurological Episodic ataxia Neurological Episodic [genomediagnosticsnijmegen.nl]

[…] disability-progressive spastic diplegia syndrome Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Severe lateral tibial bowing with short stature Severe motor and intellectual disabilities-sensorineural deafness-dystonia [se-atlas.de]

[…] osteodysplasticum Multiple congenital anomalies (MCA) GM1-gangliosidosis Multiple congenital anomalies (MCA) Guttmacher syndrome Multiple congenital anomalies (MCA) Hartsfield syndrome Multiple congenital anomalies (MCA) Hereditary congenital facial paresis [genomediagnosticsnijmegen.nl]