All individuals with variants in gene MDGA2

14 entries on 1 page. Showing entries 1 - 14.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00318021 PKMR72 PubMed: Riazuddin 2017 - - yes Pakistan Punjabi - - - - ID Non syndromic. 1 1 Johan den Dunnen
00472382 Fam1Pat1(IV1) PubMed: Morsy 2026 4-generation family, 2 affected brothers, unaffected carrier parents M yes Egypt - - - - - - see paper; ..., hypotonia (infancy); severe global developmental delay; 3m-psychomotor regression; progressive disease; sleep problems; generalized tonic-clonic seizures, 3m-focal, myoclonic; brisk deep-tendon reflexes; normal muscle tone; no muscle weakness; abnormal movement; dysmorphic features; 6m-MRI brain brain atrophy, delayed myelination, small asal ganglia/hippocampi 1 2 Johan den Dunnen
00472383 Fam2Pat2(IV7) PubMed: Morsy 2026 4-generation family, 3 affected (sister/2 brothers), unaffected carrier parents M yes Egypt - - - - - - see paper; ..., hypotonia (infancy); severe global developmental delay; no psychomotor regression, since early life; progressive disease; sleep problems; generalized tonic-clonic seizures, 50d-atonic seizures; brisk deep-tendon reflexes; normal muscle tone; muscle weakness; abnormal movement; dysmorphic features; 4m-MRI brain brain atrophy, delayed myelination, small asal ganglia/hippocampi 1 3 Johan den Dunnen
00472384 Fam3Pat3A(V1) PubMed: Morsy 2026 5-generation family, affected sister/brothers, unaffected carrier parents F yes Egypt - - - - - - see paper; ..., hypotonia (infancy); severe global developmental delay; 5m-psychomotor regression; progressive disease; sleep problems; 5m-focal with secondary generalization tonic-clonic seizures; brisk deep-tendon reflexes; hypotonia; muscle weakness; abnormal movement; dysmorphic features; 6m-MRI brain brain atrophy, delayed myelination, small asal ganglia/hippocampi 1 2 Johan den Dunnen
00472385 Fam3Pat3B(V2) PubMed: Morsy 2026 brother M yes Egypt - - - - - - see paper; ..., hypotonia (infancy); severe global developmental delay; 3m-psychomotor regression; progressive disease; no sleep problems; 2m-focal with secondary generalization tonic-clonic seizures; brisk deep-tendon reflexes; hypotonia; muscle weakness; no abnormal movement; dysmorphic features; 2y-MRI brain brain atrophy, delayed myelination, small asal ganglia/hippocampi 1 1 Johan den Dunnen
00472386 Fam4Pat4(IV2) PubMed: Morsy 2026 4-generation family, 2 affected brothers, unaffected carrier parents M yes - Asia-E 1y6m - - - - see paper; ..., 2y6m-deceased; hypotonia (infancy); severe global developmental delay; 3m-psychomotor regression; progressive disease; sleep problems; 2m-focal with secondary generalization tonic-clonic seizures; elicited deep-tendon reflexes; normal muscle tone; no muscle weakness; abnormal movement; dysmorphic features; 1y-MRI brain brain atrophy, delayed myelination, small asal ganglia/hippocampi 1 1 Johan den Dunnen
00472387 Fam5Pat5A(IV4) PubMed: Morsy 2026 4-generation family, 6 affected, (5F, M) unaffected carrier parents F yes Saudi Arabia - 4y6m - - - - see paper; ..., 4y6m-deceased; hypotonia (infancy); severe global developmental delay; no psychomotor regression, since early life; progressive disease; sleep problems; 1m-myoclonic, tonic, clonic, focal generalized tonic-clonic seizures; brisk deep-tendon reflexes; hypotonia; muscle weakness; no abnormal movement; dysmorphic features; 1 2 Johan den Dunnen
00472388 Fam5Pat5B(IV5) PubMed: Morsy 2026 sister F yes Saudi Arabia - - - - - - see paper; ..., hypotonia (infancy); severe global developmental delay; no psychomotor regression, since early life; progressive disease; sleep problems; 2m-epileptic spasm, tonic seizures; dysmorphic features; 3y-MRI brain brain atrophy, dno elayed myelination, small asal ganglia/hippocampi 1 1 Johan den Dunnen
00472389 Fam6Pat6(IV1) PubMed: Morsy 2026 4-generation family, 1 affected, unaffected carrier parents M yes Saudi Arabia - - - - - - see paper; ..., deceased 1 1 Johan den Dunnen
00472390 Fam7Pat7 PubMed: Morsy 2026 4-generation family, 1 affected, unaffected carrier parents M yes Iran - - - - - - see paper; ..., hypotonia (infancy); severe global developmental delay; no psychomotor regression, since early life; progressive disease; no sleep problems; 9m-seizures; elicited deep-tendon reflexes; hypotonia; muscle weakness; no abnormal movement; dysmorphic features; 1y-MRI brain brain atrophy, delayed myelination, small asal ganglia/hippocampi 1 1 Johan den Dunnen
00472391 FamM1(IV4) PubMed: Morsy 2026 4-generation family, 2 affected sisters F yes Saudi Arabia - - - - - - see paper; ..., 5y9m-delayed motor milestones, hypotonia (infancy), 18m-sit, 3y- wakl; profound speech delay, no expressive language, cannot perform activities daily living; no regression; 8m-GTC seizures, no tatus epilepticus; generalized hypotonia, preserved reflexes, no weakness, no spasticity, no dystonia, no ataxia; gait broad-based, frequent falls; no cranial nerve abnormalities, no sensory deficits, no dysmorphic features; 4y-MRI brain faint white matter signal alterations, incomplete myelination, non-specific bilateral thalamic signal abnormalities 1 2 Johan den Dunnen
00472392 FamM2(IV2) PubMed: Morsy 2026 4-generation family, 1 affected, unaffected carrier parents M yes Turkey - - - - - - see paper; ..., mild motor delay, 5m-sit, 12m-walki; speech delay, only single spoken word, onverbal communication; independent ambulation; seizures; preserved reflexes, normal tone, no weakness, no spasticity, no dystonia, normal movements: 9m-MRI brain cerebral atrophy, reduced white matter volume, ventricular enlargement; patent foramen ovale, recurrent respiratory infections, laryngomalacia 1 1 Johan den Dunnen
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