Phenotypes for disease #01062 (MCAHS-2;GPIBD-4 (multiple congenital anomalies, hypotonia, seizures syndrome, type 2 (MCAHS-2, glycosylphosphatidylinositol deficiency, type 4 (GPIBD-4))), OMIM:300868)

13 entries on 1 page. Showing entries 1 - 13.
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Individual ID     
0000024982 Three males with an X-linked lethal disorder involving cleft palate, neonatal seizures, contractures, central nervous system (CNS) structural malformations, and other anomalies. - - Familial, autosomal recessive - - - - - Philippe Campeau 00028955
0000024983 The boy presented early infantile epileptic encephalopathy. He also had severe disability, myoclonus, and quadriplegia. - - Unknown 06y - - - - Philippe Campeau 00028956
0000024985 The patients had profound retardation, axial hypotonia, epileptic seizures, and hypsarrhythmia. None of them suffered from any signs of PNH. The hypomorph protein, in this patients, prevents the lethality but not the MCAHS-2 like phenotype. - - Familial, X-linked recessive - - - - - Philippe Campeau 00028957
0000024986 Siblings showing early myoclonic encephalopathy, - - Familial - - - - - Philippe Campeau 00028960
0000024987 Patient with early infantile epileptic encephalopathy. - - Unknown - - - - - Philippe Campeau 00028961
0000024988 Patient with early infantile epileptic encephalopathy. - - Unknown - - - - - Philippe Campeau 00028962
0000024989 The affected males presented neurological involvement characterized by an infantile-onset epilepsy and encephalopathy, and cutaneous abnormalities and evidence of systemic iron overload. - - Familial, X-linked recessive - - - - - Philippe Campeau 00028963
0000024990 He had febrile seizures at 8.5 months. He had development delay. Clinical examination showed a high anterior hairline, mildly upslanted palpebral fissures, a thin vermillion, a long philtrum, alveolar ridge overgrowth, absence of teeth and deepened plantar creases. He presented several types of seizures. Atrial septal defect type 2 was seen. Elevated alkaline phosphatase level was noted. - - Familial, X-linked recessive - - - - - Philippe Campeau 00028964
0000070592 profound IDD, dysmorphisms, infantile spasms, contractures, brain intramyelin edema, mixed hearing loss,liver dysfunction; lipoprotein lipase deficiency / mitochondrial complex I and IV deficiency / elevated alkaline phosphatase; Maple Syrup Disease-like features on brain MRI - - Familial, X-linked recessive - - - - - Johan den Dunnen 00092257
0000155154 Psychomotor DD, hypotonia, encepalopathy features (including loss of facial expression and eye pursuit), brain abnormalities (including high symmetry flake signal in bilateral pontine tegmental area and testibrachium), no epilepsy, minor dysmorphism (concave nasal bridge, low-set ears) - - Familial, X-linked 00y00m29d - <00y00m29d - - Philippe Campeau 00207383
0000155155 Hypotonia after birth, repeated seizures (epilepsy), ID. - - Familial, X-linked 00y10m - <00y10m - - Philippe Campeau 00207384
0000155156 Hypotonia, epilepsy, ID - - Familial, X-linked <01y - ? - - Philippe Campeau 00207385
0000155298 Global developmental delay; seizures; central hypotonia; brain atrophy - - Familial, X-linked - - - - - Philippe Campeau 00207522
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