Phenotypes for disease #03958 (MTDPS13 (mitochondrial DNA depletion syndrome, type 13 (MTDPS-13, encephalomyopathic type)), OMIM:615471)

33 entries on 1 page. Showing entries 1 - 33.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000060435 m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00080866
0000060483 m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00080914
0000060526 m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00080957
0000060558 m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00080989
0000085687 FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, Seizure, Movement disorder, Ataxia, White matter abnormalities, Cerebral atrophy, Peri/paraventricualr cysts, Thin corpus callosum, Cerebellar hypoplasia, Brain stem atrophy, Feeding difficulties, Lactic acidemia, Hyperammonemia , Depressed nasal bridge, Small feet - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107943
0000085688 SGA, FTT , Microcephaly, Developmental delay, Hypotonia, Seizure, Movement disorder, Nystagmus, Optic atrophy, Feeding difficulties, Liver dysfunction, Recurrent infections, Lactic acidemia, Hyperammonemia , Smooth philtrum, Short palpebral fissures, Epicanthus, Depressed nasal bridge, Narrow forehead, Small feet, Long eyelashes, Small hands - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107944
0000085696 Developmental delay, Hypotonia, Seizure, Movement disorder, White matter abnormalities, Cerebral atrophy, Basal ganglia abnormalities , Thin corpus callosum, Cerebellar hypoplasia, Arachnoid cyst, Brain stem atrophy, Lactate peak in MRS, Cardiomyopathy, Congenital heart disease, Nystagmus, Strabismus, Optic atrophy, Feeding difficulties, Inguinal / umbilical hernia, Undescended testis, Recurrent infections, Lactic acidemia, Hyperammonemia , Broad nasal bridge, Low set ears, Synophrys, Epicanthus, Long philtrum, Depressed nasal bridge, Narrow forehead, Long eyelashes - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107952
0000085697 FTT , Short stature, Developmental delay, Hypotonia, Peri/paraventricualr cysts, Enlarged cisterna magna, Congenital heart disease, Arrhythmia, Feeding difficulties, Inguinal / umbilical hernia, Lactic acidemia, Hyperammonemia - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107953
0000085699 FTT , Short stature, Developmental delay, Hypotonia, Peri/paraventricualr cysts, Enlarged cisterna magna, Congenital heart disease, Arrhythmia, Feeding difficulties, Inguinal / umbilical hernia, Lactic acidemia, Hyperammonemia - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107955
0000085704 FTT , Short stature, Developmental delay, Hypotonia, Peri/paraventricualr cysts, Enlarged cisterna magna, Congenital heart disease, Arrhythmia, Feeding difficulties, Inguinal / umbilical hernia, Lactic acidemia, Hyperammonemia - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107954
0000085705 FTT , Microcephaly, Developmental delay, Hypotonia, Seizure, White matter abnormalities, Cerebral atrophy, Arachnoid cyst, Cardiomyopathy, Congenital heart disease, Pulmonary hypertension, Nystagmus, , Feeding difficulties, Hypospadias, Undescended testis, Lactic acidemia, Hyperammonemia - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107955
0000085706 FTT , Microcephaly, Developmental delay, Hypotonia, White matter abnormalities, Basal ganglia abnormalities , Thin corpus callosum, Hypospadias - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107954
0000085707 FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, Arrhythmia, Feeding difficulties, Lactic acidemia - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107956
0000085708 Microcephaly, Developmental delay, Hypotonia, Nystagmus, Strabismus - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107957
0000085709 SGA, FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, Seizure, Movement disorder, Stroke-like episodes, White matter abnormalities, Cerebral atrophy, Lactate peak in MRS, Strabismus, Optic atrophy, Feeding difficulties, Recurrent infections, Neutropenia, Lactic acidemia, Thick eyebrows, Synophrys, Ptosis - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107958
0000085710 SGA, FTT , Short stature, Developmental delay, Hypotonia, White matter abnormalities, Hydrocephalus/ dilated ventricles, Lactate peak in MRS, Cardiomyopathy, Congenital heart disease, Nystagmus, Strabismus, Optic atrophy, Feeding difficulties, Recurrent infections, Lactic acidemia, Hyperammonemia , Broad nasal bridge, Low set ears, Short palpebral fissures, Epicanthus, Long philtrum, Prominent forehead, Depressed nasal bridge, High arched palate, Protruding ears, Small feet, Thin vermilion of upper lip, Wide nasal base, Long eyelashes, Almond shaped eyes, Broad forehead, Small hands, Brachycephaly, Syndactyly - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107959
0000085711 SGA, FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, White matter abnormalities, Lactate peak in MRS, Feeding difficulties, Inguinal / umbilical hernia, Lactic acidemia, Hyperammonemia , Synophrys, Prominent forehead, Depressed nasal bridge, Upslanted palpebral fissure - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107960
0000085713 SGA, FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, White matter abnormalities, Lactate peak in MRS, Cardiomyopathy, , Feeding difficulties, Lactic acidemia, Prominent forehead - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107961
0000085714 White matter abnormalities, Peri/paraventricualr cysts, Thin corpus callosum, Cerebellar hypoplasia, Hydrocephalus/ dilated ventricles, Strabismus, Feeding difficulties, Lactic acidemia, Hyperammonemia , Epicanthus, Long philtrum, Prominent forehead, Depressed nasal bridge, Plagiocephaly, Small feet, Thin vermilion of upper lip, Wide nasal base, Long eyelashes, Broad forehead, Small hands - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107963
0000085715 White matter abnormalities, Cerebral atrophy, Hydrocephalus/ dilated ventricles, Brain stem atrophy, Enlarged cisterna magna, Feeding difficulties, Liver dysfunction, Undescended testis, Recurrent infections, Lactic acidemia, Hyperammonemia - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107964
0000085716 White matter abnormalities, Cerebral atrophy, Cerebellar hypoplasia, Hydrocephalus/ dilated ventricles, Feeding difficulties, Undescended testis, Recurrent infections, Lactic acidemia, Broad nasal bridge, Low set ears, Prominent forehead, Hypertelorism, Depressed nasal bridge, High arched palate, Thin vermilion of upper lip, Wide nasal base, Long eyelashes, Broad forehead - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107965
0000085717 White matter abnormalities, Cerebral atrophy, Peri/paraventricualr cysts, Hydrocephalus/ dilated ventricles, Brain stem atrophy, Lactate peak in MRS, Cardiomyopathy, Congenital heart disease, , Feeding difficulties, Lactic acidemia, Hyperammonemia - - Familial, autosomal recessive - - - - - Hongzheng Dai 00107966
0000087164 see paper; … - - Familial, autosomal recessive 1y7m - 2m - - Johan den Dunnen 00110536
0000087165 see paper; … - - Familial, autosomal recessive 10m - - - - Johan den Dunnen 00110537
0000087166 see paper; … - - Familial, autosomal recessive 1y2m - - - - Johan den Dunnen 00110538
0000087167 see paper; … - - Familial, autosomal recessive - - - - - Johan den Dunnen 00110539
0000087168 see paper; … - - Familial, autosomal recessive 1y11m - - - - Johan den Dunnen 00110540
0000087169 see paper; … - - Familial, autosomal recessive 1y10m - 4m - - Johan den Dunnen 00110541
0000087170 see paper; … - - Familial, autosomal recessive 5y - - - - Johan den Dunnen 00110542
0000087171 see paper; … - - Familial, autosomal recessive - - - - - Johan den Dunnen 00110543
0000087172 see paper; … - - Familial, autosomal recessive 7m - - - - Johan den Dunnen 00110544
0000087173 see paper; … - - Familial, autosomal recessive 12y - 2y - - Johan den Dunnen 00110545
0000116452 see paper; ... - - Familial, autosomal recessive - - - - - Johan den Dunnen 00107962
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