Phenotypes for disease #00787 (encephalopathy, neonatal, severe, OMIM:300673)

25 entries on 1 page. Showing entries 1 - 25.
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0000030220 Not Rett synd. - neonatal encephalopathy - - Unknown - - - - - RettBASE 00039937
0000031042 Not Rett synd. - Progressive encephalopathy of neonatal onset - - Unknown - - - - - RettBASE 00040759
0000031161 Not Rett synd. - Progressive encephalopathy of neonatal onset - - Unknown - - - - - RettBASE 00040878
0000031205 Not Rett synd. - Progressive encephalopathy of neonatal onset - - Unknown - - - - - RettBASE 00040922
0000031448 Not Rett synd. - Progressive encephalopathy of neonatal onset - - Unknown - - - - - RettBASE 00041165
0000032077 Not Rett synd. - Progressive encephalopathy of neonatal onset - - Unknown - - - - - RettBASE 00041794
0000032401 Not Rett synd. - Progressive encephalopathy of neonatal onset - - Unknown - - - - - RettBASE 00042118
0000032414 Not Rett synd. - Progressive encephalopathy of neonatal onset - - Unknown - - - - - RettBASE 00042131
0000032422 Not Rett synd. - progressive encephalopathy of neonatal onset - - Unknown - - - - - RettBASE 00042139
0000032509 Not Rett synd. - Progressive encephalopathy of neonatal onset - - Unknown - - - - - RettBASE 00042226
0000032602 Not Rett synd. - progressive encephalopathy of neonatal onset - - Unknown - - - - - RettBASE 00042319
0000033909 Not Rett synd. - progressive encephalopathy of neonatal onset - - Unknown - - - - - RettBASE 00043626
0000033919 Not Rett synd. - Progressive encephalopathy of neonatal onset - - Unknown - - - - - RettBASE 00043636
0000051215 see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), cataracts (HP:0000518), ptosis (HP:0000508), cortical visual impairment (HP:0100704), no abnormal hearing (-HP:0100704), right preauricular pit (HP:0004467), gingival hyperplasia (HP:0000212), macroglossia (HP:0000158), neurogenic bladder (vesicostomy) (HP:0000011), subdural hematoma (unclear etiology) (HP:0100309), metabolic stroke (HP:?), osteoporosis (three femur fractures) (HP:0000939), hypertriglyceridemia (HP:0002155), Bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), no deep-set eyes (-HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), coarse features (HP:0000280), macroglossia (HP:0000158), gingival hyperplasia (HP:0000212) - - Familial, autosomal recessive 14y - 02y06m - - Jamie Zeegers 00065108
0000051217 see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), cortical visual impairment (HP:0100704), no abnormal hearing (-HP:0100704), osteoporosis (three femur fractures) (HP:0000939), mild virilization of external genitalia as a neonate (subsequently normalized) (HP:?), turricephaly (HP:0000262), Bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), deep-set eyes (HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), no coarse features (-HP:0000280), no macroglossia (-HP:0000158), gingival hyperplasia (HP:0000212) - - Familial, autosomal recessive 04y - 00y25m - - Jamie Zeegers 00065111
0000051219 see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), visual impairment (HP:0000505), no abnormal hearing (-HP:0100704), osteoporosis (three femur fractures) (HP:0000939), muscle fasciculations (HP:0002380), increased muscle bulk (HP:0030236), elevated creatine kinase (800 IU/L) during viral infection (not repeated) (HP:0003236), Bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), deep-set eyes (HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), no coarse features (-HP:0000280), no macroglossia (-HP:0000158) - - Familial, autosomal recessive 10y - 06y - - Jamie Zeegers 00065114
0000051220 see paper: developmental disability (HP:?), no developmental regression (-HP:0002376), severe hypotonia (HP:0006829), bilateral optical atrophy (HP: ?), severe esotropia (HP:0000565), no abnormal hearing (-HP:0100704), right-sided aortic arch (HP:0012020), 11 ribs (HP:0000878), turricephaly (HP:0000262), hypertrichosis (HP:0000998), bitemporal narrowing (HP:0000341), no arched eyebrows (-HP:0002553), no deep-set eyes (-HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), coarse features (HP:0000280), no macroglossia (-HP:0000158) - - Familial, autosomal recessive 00y24m - - - - Jamie Zeegers 00065115
0000051221 see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), cortical visual impairment (HP:0100704), no abnormal ERG (-HP:0000512), no abnormal hearing (-HP:0100704), hypertriglyceridemia (HP:0002155), tongue fasciculations (HP:0001308), intermittent hyponatremia (HP:0002902), osteoporosis (HP:0000939), bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), deep-set eyes (HP:0000490), high nasal bridge (HP:0000426), no anteverted nares (-HP:0000463), exaggerated cupid’s bow (HP:0002263), coarse features (HP:0000280), macroglossia (HP:0000158), gingival hyperplasia (HP:0000212) - - Familial, autosomal recessive 14y - 00y11m - - Jamie Zeegers 00065116
0000059383 - - - Unknown - - - - - Henk van Kranen 00079660
0000141909 see paper; ... Aicardi syndrome (early myoclonic epilepsy) - Isolated (sporadic) - - - - - Laurent Villard 00152004
0000170752 Central apnoea (HP:0000961); Cerebral atrophy (HP:0002059); Bradycardia (HP:0001662); Abnormality of eye movement (HP:0000496); Optic disc pallor (HP:0000543); Muscular hypotonia of the trunk (HP:0008936); Vertigo/dizziness (HP:0002321) - - Familial, autosomal recessive - - 00y00m - - Thomas Foulonneau 00225649
0000170753 Abnormality of eye movement (HP:0000496); Cerebellar atrophy (HP:0001272); Bilateral Optic disc pallor (HP:0000543); Muscular hypotonia of the trunk (HP:0008936); Global developmental delay (HP:0001263); Nystagmus (HP:0000639); Poor eye contact (HP:0000817); Abnormal saccadic eye movements (HP:0000570) - - Familial, autosomal recessive 06y - 01y08m - - Thomas Foulonneau 00225650
0000172075 microcephaly, pachygyria, polymicrogyria, encephalopathy, abnormal cortical gyrus, corpus callosum agenesia, brain atrophy - PEBAS Familial, autosomal recessive 01y - - - - Evren Gumus 00228163
0000207365 Epileptic encephalopathy (HP:0200134) - - Unknown - - - - - Francesca Bisulli 00269534
0000270781 Lennox-Gastaut epileptic encephalopathy responsive to cannabidiol treatment - - Familial, autosomal dominant - - - - - Rafał Płoski 00375567
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