All individuals with variants in gene RBM28

7 entries on 1 page. Showing entries 1 - 7.
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00050581 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum 1 1 Johan den Dunnen
00231854 - - - - - - - - - - - ? - 2 1 Filippo Vairo
00234312 FamPatIII1 PubMed: Nousbeck 2008 3-generation family, 5 affected (5M), unaffected heterozygous carrier parents/relatives M - Israel Arab Moslem - - - - ANES severe intelletual disability; alopecia universalis; height 150 (-3.5 SD); OFC 52.5 (-2.5 SD); dental carries +++; hypodontia/early teeth loss; gynecomastia +++ ; severe kyphoscoliosis; limb contractures + ; motor deterioration +++; upper motor neuron dysfunction +++; no muscle atrophy; penile length 4 cm; Tanner stage 1 (prepubertal); hypogonadotropic hypogonadism; central adrenal insufficiency 1 5 Johan den Dunnen
00234313 FamPatIII2 PubMed: Nousbeck 2008 PatIII2 M - Israel Arab Moslem - - - - ANES moderate intelletual disability; sparse hair trunk, axilla; height 166 (7); OFC 55 (40); dental carries ++; no hypodontia/early teeth loss; gynecomastia +++ ; no kyphoscoliosis; no limb contractures; motor deterioration +/-; upper motor neuron dysfunction +/-; no muscle atrophy; penile length 8 cm; Tanner stage 3-4; hypogonadotropic hypogonadism; central adrenal insufficiency 1 1 Johan den Dunnen
00234314 FamPatIII3 PubMed: Nousbeck 2008 PatIII3 M - Israel Arab Moslem - - - - ANES severe intelletual disability; alopecia universalis; height 167 (8); OFC 52 (-2.5 SD); dental carries +++; hypodontia/early teeth loss; gynecomastia + ; moderate kyphoscoliosis; limb contractures ++ ; motor deterioration ++; upper motor neuron dysfunction +++; muscle atrophy; penile length 5 cm; Tanner stage 1 (prepubertal); hypogonadotropic hypogonadism; central adrenal insufficiency; CT brain normal 1 1 Johan den Dunnen
00234315 FamPatIII4 PubMed: Nousbeck 2008 PatIII4 M - Israel Arab Moslem - - - - ANES moderate intelletual disability; partial alopecia; height 169 (10); OFC 53.5 (5); dental carries +++; no hypodontia/early teeth loss; gynecomastia ++ ; moderate kyphoscoliosis; limb contractures +++ ; motor deterioration ++; upper motor neuron dysfunction ++; muscle atrophy; penile length 9.5 cm; Tanner stage 3; hypogonadotropic hypogonadism; central adrenal insufficiency; CT brain normal 1 1 Johan den Dunnen
00234316 FamPatIII5 PubMed: Nousbeck 2008 PatIII5 M - Israel Arab Moslem - - - - ANES severe intelletual disability; alopecia universalis; height 148 (-3.5 SD); OFC 49.8 (-3 SD); dental carries +++; hypodontia/early teeth loss; no gynecomastia; moderate kyphoscoliosis; limb contractures ++ ; motor deterioration ++; upper motor neuron dysfunction +++; muscle atrophy; penile length 4 cm; Tanner stage 1 (prepubertal); hypogonadotropic hypogonadism; central adrenal insufficiency; CT brain normal; MRI brain hypoplastic pituitary 1 1 Johan den Dunnen
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