It is also characterized by retinitis pigmentosa, anosmia (loss of sense of smell), and neuropathy in the hands and feet. The condition is progressive, and symptoms may not appear until middle age. [tsbvi.edu]

Anosmia : loss of the sense of smell. (Oxford) This can be temporary, as with a cold, or it can be permanent, following certain viral infections, head injuries, and "tumors" affecting the “olfactory nerve.” [richardsonthebrain.com]

Cranial nerves Olfactory nerve Damage to the olfactory nerve can occur from a head injury, local nasal disease, or pressure from a tumour and may result in reduced sensitivity to smell or a complete loss (anosmia) on the side supplied by the nerve. [britannica.com]

Shortly after Jamie was born, she developed a heart murmur and began passing out. Her mom, Liz, walks us through what it was like to witness such terrifying scenarios and how she began to become an advocate for her daughter. [player.fm]

Hypotonia Mutation Optic Atrophies, Hereditary Optic Atrophy Seizures Whole Exome Sequencing [fcd.mcw.edu]

I'm super thankful for every day these pretty blue eyes can stare straight back into mine #mamasboy #bbsoas @nr2f1foundation / 25 likes / 1 comments / 2 months ago The name 'Bosch-Boonstra-Schaaf optic atrophy syndrome' comes from the three researchers [kapatu.com]

I'm super thankful for every day these pretty blue eyes can stare straight back into mine #mamasboy #bbsoas #nr2f1foundation #cerebralpalsy The name 'Bosch-Boonstra-Schaaf optic atrophy syndrome' comes from the three researchers who first discovered the [imgrum.org]

eyes in untreated AR PAH #261600 PIERRE ROBIN SEQUENCE Stickler syndrome AD, AR, X-linked, isolated - %261800 PIGMENT DISPERSION SYNDROME Glaucoma, myopia, pigment granules on corneal endothelium, iris transillumination defects, concave iris, increased [eyewiki.aao.org]

Either the technician leaves, or a doctor walks in to “take a closer look” … a million questions and thoughts and fears run through your mind. [player.fm]

So I said all of that to say those of you who have fear and are it sure about pushing your little ones, NEVER GIVE UP!!! Your miracle may be just around the corner!! [imgrum.org]

Stress, fatigue, anger, fear, caffeine, and smoking may make this type of tremor worse. A tremor that does not go away over time may be a sign of a medical problem. [richardsonthebrain.com]

If neither parent is affected and the mutation occurred de novo, the parents have a Introduce objects with bold colors and use simple pictures Reduce distractions and visual clutter (ex: place objects in front of an all-black background) Ensure your child [nr2f1.org]

Why was I grieving? A wise friend summed it up for me, “You’re grieving because you hoped you wouldn’t have to take the path with the gigantic boulder in your way…but you do. There’s no going around it. This is the path you have to take.” [sayholalola.com]

She is already more focused and is so excited to see the world around her! We think they look great on her! [kapatu.com]

In this disorder, individuals lose their orientation in time, space, and person; they may show altered levels of consciousness, emotional instability, physical excitability, agitation, disorderliness, hallucinations, and delusions. [britannica.com]

These researchers reviewed the physiology of the cardiac calcium homeostasis, including the cardiac excitation contraction coupling and myocyte calcium cycling. [aetna.com]

[…] uniparental disomy; imprinting defects; UBE3A mutations Angelman syndrome is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia, and unique behavior that includes frequent laughing, smiling, and excitability [chginc.org]

Bonnie and Mark carver January 21, 2010 Decatur, GA I will never forget our many all night work sessions trying to get payroll done. We would talk about so many things and Doug always had a way to make things work or help to solve my latest problem. [legacy.com]

Touch, taste, smell, hearing and vision and don't forget movement! 3. ... [kapatu.com]

Touch, taste, smell, hearing and vision and don't forget movement! 3. Look for things that visually pop. Shiny, reflective material and lights help to give the illusion of movement and can more easily catch the child's visual attention. 4. Ask! [imgrum.org]

Proprioception is often combined with visual information which is part of why those with visual impairments can have decreased proprioceptive ability. : : : : : #nr2f1 #nr2f1foundation @nr2f1foundation / 15 likes / 0 comments / 1 months ago "The best [kapatu.com]

Proprioception is often combined with visual information which is part of why those with visual impairments can have decreased proprioceptive ability. : : : : : #NR2F1 #NR2F1Foundation #BBSOAS #SixthSense #proprioception #proprioceptive #sense #fivesenses [imgrum.org]

But we’ve also witnessed a little girl persevere through unbelievable hurdles. We’ve watched her push through therapies. We’ve seen her fail at tasks but then immediately try again. And through it all she continues to smile. She’s happy. [sayholalola.com]

Our kids are our heroes, they put up with so much and still they persevere. They are determined and they are happy! We are so lucky to have them in our lives. [kapatu.com]

Development Disorders Male Models, Molecular Muscle Hypotonia Mutation Optic Atrophies, Hereditary Optic Atrophy Seizures Whole Exome Sequencing [fcd.mcw.edu]

Here we report two unrelated probands with novel, de novo, missense variants in NR2F1 The first is a 14-yr-old male patient with hypotonia, intellectual disability, optic nerve hypoplasia, delayed bone age, short stature, and altered neurotransmitter [mayoclinic.pure.elsevier.com]

Here we report two unrelated probands with novel, de novo, missense variants in The first is a 14-yr-old male patient with hypotonia, intellectual disability, optic nerve hypoplasia, delayed bone age, short stature, and altered neurotransmitter levels [fcd.mcw.edu]