Protein links actin cytoskeleton to cell surface glycoproteins and functions as a negative growth regulator Spred1 Have pigmentary changes but NO NFs Image for signs and symptoms in 1 but 2 requires MRI 83% of NF2 with vision loss, 75% with hearing loss [brainscape.com]

Sensorineural deafness, polydactyly, syndactyly, clubbing of fingers, mental retardation, dwarfism, photophobia, and strabismus are associated features. Clouston syndrome is mapped to 13q11. [emedicine.medscape.com]

*phlebitis【静脈炎】 *phlebolith【静脈石 静脈結石】 *phlebolithiasis【静脈結石症】 *phlebosclerosis【静脈線維症】(venofibrosis) *phlebostasis【静脈鬱血】(venous stasis; venostasis; venous congestion) *phlebothrombosis【静脈血栓症】(venous thrombosis) *phlebothrombus【静脈血栓】 *phlegmon【蜂巣織炎】 *photophobia [medo.jp]

【眼瞼痙攣】(blepharospasm) *blepharitis【眼瞼炎】 *blepharoadenitis【眼瞼腺炎】(blepharadenitis) *blepharoadenoma【眼瞼腺腫】 *blepharoatheroma【眼瞼粉瘤 眼瞼アテローム】 *blepharochalasis【眼瞼皮膚弛緩(症)】 *blepharoconjunctivitis【眼瞼結膜炎】 *blepharochromidrosis【眼瞼色汗症】 *blepharoclonus【間代性眼瞼痙攣】 * [medo.jp]

lentis, Knobloch syndrome, Knuckle pads leuconychia and sensorineural deafness, Kocher-Debre-Semelaigne syndrome, Kohler disease, Kohlschutter Tonz syndrome, Konigsmark Knox Hussels syndrome, Koone Rizzo Elias syndrome, Kosztolanyi syndrome, Kotzot-Richter [yumpu.com]

head circumference [ more ] 0000252 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 X-linked inheritance 0001417 Showing of 8 Last updated: 12/1/2018 If you need medical advice, you can look for doctors or [rarediseases.info.nih.gov]

head syndrome Cleft palate-short stature-vertebral anomalies syndrome Combined pituitary hormone deficiencies, genetic forms Congenital laryngeal web Czech dysplasia, metatarsal type Deafness-epiphyseal dysplasia-short stature syndrome Deficiency in [se-atlas.de]

She r e c a l l s t h a t he had a c lub foot deformity, bu t not as severe as i n h i s nephew (111-2). t o hold up h i s head. [documents.tips]

deformity flat facies Hand–foot–uterus syndrome Hand wringing Rett syndrome Hand, foot and mouth disease Hand–Schüller–Christian disease Hanhart syndrome Harding ataxia Harlequin type ichthyosis Harpaxophobia Harrod–Doman–Keele syndrome Hartnup disease [sosu.us]

Patchy alopecia of vertex scalp Atrophic changes of dorsal hands Onychodystrophy Subungual tumors with lytic bone lesions Palmerplantar hyperhidrosis Teeth (90%) bones (40%) CNS (33%) MC CNS are seizures Defective neutrophil chemotaxis reported Eye changes [brainscape.com]

Signs and Symptoms Alopecia ... ... [familydiagnosis.com]

Generalized alopecia and microcephaly were also present.Visit the Orphanet disease page for more resources. [malacards.org]

Note bandlike area of alopecia in parietal and occipital regions of scalp. Discussion The early development of the cerebellum is well illustrated in Hochstetter's drawings of 7.8 mm and 2.7 mm human embryos (Fig 4A and B). [docslide.com.br]

Alopecia, deafness, nail dystrophy, and dental loss may be associated. [emedicine.medscape.com]

Patchy alopecia of vertex scalp Atrophic changes of dorsal hands Onychodystrophy Subungual tumors with lytic bone lesions Palmerplantar hyperhidrosis Teeth (90%) bones (40%) CNS (33%) MC CNS are seizures Defective neutrophil chemotaxis reported Eye changes [brainscape.com]

Signs and Symptoms Alopecia ... ... [familydiagnosis.com]

Generalized alopecia and microcephaly were also present.Visit the Orphanet disease page for more resources. [malacards.org]

Note bandlike area of alopecia in parietal and occipital regions of scalp. Discussion The early development of the cerebellum is well illustrated in Hochstetter's drawings of 7.8 mm and 2.7 mm human embryos (Fig 4A and B). [docslide.com.br]

Alopecia, deafness, nail dystrophy, and dental loss may be associated. [emedicine.medscape.com]

[…] inverted papilloma【逆性乳頭腫 内翻性乳頭腫】 pigmented papilloma【色素性乳頭腫】(seborrheic keratosis) plexus papilloma【脈絡叢乳頭腫】 *papillomatosis【乳頭腫症】 laryngeal papillomatosis【喉頭乳頭腫症】 *papillotubular adenoma【乳頭腺管腺腫】 *papillotubular carcinoma【乳頭腺管癌】 *papular glossitis【丘疹性舌炎】 *papule [medo.jp]

alopecia Hypogonadism retinitis pigmentosa Hypogonadism, isolated, hypogonadotropic Hypogonadism Hypogonadotropic hypogonadism syndactyly Hypogonadotropic hypogonadism without anosmia, X linked Hypogonadotropic hypogonadism-anosmia, X linked Hypogonadotropic [sosu.us]

face congenital retarded development Heart defect tongue hamartoma polysyndactyly Heart defects limb shortening Heart hand syndrome Spanish type Heart hypertrophy, hereditary Heart situs anomaly Heart tumor of the adult Heart tumor of the child Heavy [sosu.us]

speech and language development Epileptic encephalopathy Hypoplasia of the corpus callosum Infantile onset Motor delay Rare Symptoms - Less than 30% cases Irritability Progressive microcephaly Spasticity Hearing impairment Severe muscular hypotonia Intellectual [mendelian.co]

quadriplegia Opisthotonus Spastic tetraplegia Generalized myoclonic seizures Tetraplegia Neonatal hypotonia Progressive Myopathy Flexion contracture Type I diabetes mellitus Delayed CNS myelination High pitched voice Death in infancy Cardiomyopathy Atrophy [mendelian.co]

While the renal insufficiency of the propositus undoubtedly lead to his demise in infancy, his 2 affected uncles did not have any life-threatening anomalies. [documents.tips]

insufficiency) *acute renal insufficiency【急性腎不全】(acute renal failure) *acute respiratory distress syndrome 【急性呼吸窮迫症候群】 *acute sinusitis【急性洞炎】 *acute withdrawal syndrome【急性禁断症状】 *adamantinoma【エナメル上皮腫】〈ameloblastomaの旧称〉 pituitary adamantinoma【下垂体エナメル上皮腫 [medo.jp]

failure Cold & Flu, Children's Health Chronic lymphocytic leukemia Cold sore, Chlamydia Chronic myelogenous leukemia Cold urticaria, Cholecystitis Chronic pelvic pain Colic, Cholera Chronic sinusitis Collagenous colitis, lymphocytic colitis, Cholestasis [sites.google.com]