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Phenotypes for disease #05452 (MC3DN (mitochondrial complex III deficiency, nuclear (MC3DN)]))
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Diagnosis/Initial
: initial diagnosis, before molecular testing
Diagnosis/Definite
: phenotype individual after molecular testing
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Diagnosis
: age diagnosis was confirmed
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Protein
: result from protein staining
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4 entries on 1 page. Showing entries 1 - 4.
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Phenotype ID
Diagnosis/Initial
Diagnosis/Definite
Phenotype details
Inheritance
Age/Examination
Age/Diagnosis
Age/Onset
Phenotype/Onset
Protein
Owner
Individual ID
0000130185
mitochondrial complex III deficiency
MC3DN-5
see paper; ...
Familial, autosomal recessive
-
-
-
-
-
Johan den Dunnen
00000269
0000130186
mitochondrial complex III deficiency
MC3DN-5
see paper; …, neonatal lactic acidosis, hypoglycemia, severe episodes of liver failure
Familial, autosomal recessive
-
-
-
-
-
Johan den Dunnen
00165321
0000210175
mitochondrial complex III deficiency
MD3DNx
no intrauterine growth retardation (below P10) (HP:0001511); no low birth weight (HP:0001518); fetal bradycardia (HP:0001662); hypothermia (HP:0002045); feeding difficulties (HP:0008872); hyperventilation (HP:0002883); lactic acidosis (HP:0003128) 24 mmol/l; hypertrophic cardiomyopathy (HP:0001639); no ventricular septal defect (HP:0001629); no persistent left superior vena cava (HP:0005301); pericardial effusion (HP:0001698); muscular hypotonia (HP:0001252); muscular weakness (HP:0001324); elevated creatine kinase levels (HP:0003236) (>5,000 U/l); thrombocytopenia (HP:0001873); abnormality of blood coagulation (HP:0001928); alopecia totalis (HP:0007418); cholelithiasis (HP:0001081)
Familial, autosomal recessive
00y03m15d
-
-
-
-
Johan den Dunnen
00275559
0000210176
mitochondrial complex III deficiency
MD3DNx
intrauterine growth retardation (<P10) (HP:0001511); low birth weight (HP:0001518); fetal bradycardia (HP:0001662); persistent fetal circulation (HP:0011726); feeding difficulties (HP:0008872); lactic acidosis (HP:0003128) 15 mmol/l; metabolic crises during febrile infections (HP:0004897); hypertrophic cardiomyopathy (HP:0001639); ventricular septal defect (HP:0001629); persistent left superior vena cava (HP:0005301); muscular hypotonia (HP:0001252); muscular weakness (HP:0001324); delayed motor development (HP:0001270); thrombocytopenia (HP:0001873); normochromic anemia (HP:0001895); bilateral papilledema (HP:0001085); alopecia totalis (HP:0007418)
Familial, autosomal recessive
09y
-
-
-
-
Johan den Dunnen
00275560
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