TaoMedAI/RareMedData huggingface dataset:
Gene: PIGP
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Short finger (HP:0009381)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Decreased head circumference (HP:0040195)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Broad finger (HP:0001500)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Growth delay (HP:0001510)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Sloping forehead (HP:0000340)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Uni- and bilateral multifocal epileptiform discharges (HP:0011190)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Strabismus (HP:0000486)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: COX16
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Hepatic failure (HP:0001399)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: 3-hydroxydicarboxylic aciduria (HP:0008160)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Cerebral edema (HP:0002181)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Elevated circulating dodecanoylcarnitine concentration (HP:0033444)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Elevated circulating tetradecanoylcarnitine concentration (HP:0033465)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Severe lactic acidosis (HP:0004900)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Fetal onset (HP:0011461)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Ethylmalonic aciduria (HP:0003219)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Hyperglutaminemia (HP:0003217)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Death in infancy (HP:0001522)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Ketonuria (HP:0002919)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Setting-sun eye phenomenon (HP:0012470)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Brain atrophy (HP:0012444)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: COX16
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Gene: CCDC174
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Open mouth (HP:0000194)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Myopathic facies (HP:0002058)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Abducens palsy (HP:0006897)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Myopathy (HP:0003198)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Long face (HP:0000276)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: CCDC174
Phenotype: Strabismus (HP:0000486)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Gene: NT5C3A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:266120)
Gene: NT5C3A
Phenotype: Reduced circulating pyrimidine 5-prime-nucleotidase activity (HP:6000240)
Associated disease: URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:266120)
Gene: NT5C3A
Phenotype: Middle age onset (HP:0003596)
Associated disease: URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:266120)
Gene: NT5C3A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:266120)
Gene: NT5C3A
Phenotype: Hemoglobinuria (HP:0003641)
Associated disease: URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:266120)
Gene: NT5C3A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:266120)
Gene: NT5C3A
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:266120)
Gene: NT5C3A
Phenotype: Childhood onset (HP:0011463)
Associated disease: URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:266120)
Gene: NT5C3A
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:266120)
Gene: NT5C3A
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:266120)
Gene: TBC1D7
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Long penis (HP:0000040)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Macroorchidism (HP:0000053)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Megalencephaly (HP:0001355)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Celiac disease (HP:0002608)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Adrenal medullary hypoplasia (HP:0008239)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Infantile onset (HP:0003593)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Depression (HP:0000716)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Psychosis (HP:0000709)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Abnormal cranial suture/fontanelle morphology (HP:0000235)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Genu valgum (HP:0002857)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Genu valgum (HP:0002857)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Broad forehead (HP:0000337)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Pointed chin (HP:0000307)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Pointed chin (HP:0000307)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Astigmatism (HP:0000483)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Strabismus (HP:0000486)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TBC1D7
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Short neck (HP:0000470)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Gene: TBC1D7
Phenotype: Myopia (HP:0000545)
Associated disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Gene: TMEM216
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TMEM216
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: MECKEL SYNDROME, TYPE 2 (OMIM:603194)
Gene: TMEM216
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TMEM216
Phenotype: Enlarged fossa interpeduncularis (HP:0100951)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Syndactyly (HP:0001159)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TMEM216
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM216
Phenotype: Hypothalamic hamartoma (HP:0002444)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TMEM216
Phenotype: Meningocele (HP:0002435)
Associated disease: MECKEL SYNDROME, TYPE 2 (OMIM:603194)
Gene: TMEM216
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TMEM216
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TMEM216
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Thickened superior cerebellar peduncle (HP:0002404)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TMEM216
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)