TaoMedAI/RareMedData huggingface dataset:
Gene: XPNPEP3
Phenotype: Kinetic tremor (HP:0030186)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
Gene: XPNPEP3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
Gene: XPNPEP3
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
Gene: MRPS14
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Midface retrusion (HP:0011800)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Decreased activity of mitochondrial ATP synthase complex (HP:0011925)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Abnormal mitochondrial morphology (HP:0008322)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Low-set ears (HP:0000369)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Hypertelorism (HP:0000316)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: MRPS14
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Gene: STEEP1
Phenotype: Prominent crus of helix (HP:0009899)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Broad chin (HP:0011822)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Narrow face (HP:0000275)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Obesity (HP:0001513)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Broad forehead (HP:0000337)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Abnormality of superior crus of antihelix (HP:0011245)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: STEEP1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Gene: PRDM16
Phenotype: Brachydactyly (HP:0001156)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Poor speech (HP:0002465)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Ocular albinism (HP:0001107)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PRDM16
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)
Gene: PRDM16
Phenotype: Left ventricular diastolic dysfunction (HP:0025168)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)
Gene: PRDM16
Phenotype: Microtia (HP:0008551)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Gait disturbance (HP:0001288)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Seizure (HP:0001250)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Hypotonia (HP:0001252)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Polyphagia (HP:0002591)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Abnormal female external genitalia morphology (HP:0000055)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Joint stiffness (HP:0001387)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Hypospadias (HP:0000047)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Absent speech (HP:0001344)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)
Gene: PRDM16
Phenotype: Scoliosis (HP:0002650)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Narrow mouth (HP:0000160)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Hypogonadism (HP:0000135)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Renal cyst (HP:0000107)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Constipation (HP:0002019)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Dysphagia (HP:0002015)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Midface retrusion (HP:0011800)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PRDM16
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PRDM16
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Telangiectasia (HP:0001009)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: EEG abnormality (HP:0002353)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: High hypermetropia (HP:0008499)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)
Gene: PRDM16
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Nystagmus (HP:0000639)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Optic atrophy (HP:0000648)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Short stature (HP:0004322)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)
Gene: PRDM16
Phenotype: Abnormality of the anus (HP:0004378)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Macule (HP:0012733)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Autism (HP:0000717)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Atypical behavior (HP:0000708)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Young adult onset (HP:0011462)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)
Gene: PRDM16
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PRDM16
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PRDM16
Phenotype: Myopathy (HP:0003198)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Rib fusion (HP:0000902)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Bifid ribs (HP:0000892)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PRDM16
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PRDM16
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)
Gene: PRDM16
Phenotype: Epicanthus (HP:0000286)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Kyphosis (HP:0002808)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Microcephaly (HP:0000252)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Brachycephaly (HP:0000248)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PRDM16
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRDM16
Phenotype: Obesity (HP:0001513)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)