TaoMedAI/RareMedData huggingface dataset:
Gene: RERE
Phenotype: 3-4 finger osseus syndactyly (HP:0006097)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Tall stature (HP:0000098)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
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: RERE
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: RERE
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Chordee (HP:0000041)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
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: RERE
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
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: RERE
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: RERE
Phenotype: Hypospadias (HP:0000047)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Hypospadias (HP:0000047)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
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: RERE
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
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: RERE
Phenotype: Scoliosis (HP:0002650)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Broad alveolar ridges (HP:0000187)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Head-banging (HP:0012168)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
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: RERE
Phenotype: Cleft lip (HP:0410030)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
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: RERE
Phenotype: Renal cyst (HP:0000107)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
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: RERE
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: RERE
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: RERE
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
Phenotype: Poor suck (HP:0002033)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Poor suck (HP:0002033)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
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: RERE
Phenotype: Dysphagia (HP:0002015)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
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: RERE
Phenotype: Frontal bossing (HP:0002007)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
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: RERE
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
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: RERE
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
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: RERE
Phenotype: Sleep apnea (HP:0010535)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
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: RERE
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
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: RERE
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: RERE
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
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: RERE
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: RERE
Phenotype: Optic atrophy (HP:0000648)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Iris coloboma (HP:0000612)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Hypotelorism (HP:0000601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Peters anomaly (HP:0000659)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Peters anomaly (HP:0000659)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Broad thumb (HP:0011304)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
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: RERE
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: RERE
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: RERE
Phenotype: Abnormal cranial nerve physiology (HP:0031910)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
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: RERE
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: RERE
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: RERE
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: RERE
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: RERE
Phenotype: Autistic behavior (HP:0000729)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
Phenotype: Atypical behavior (HP:0000708)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
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: RERE
Phenotype: Inverted nipples (HP:0003186)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
Phenotype: Preauricular pit (HP:0004467)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
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: RERE
Phenotype: Anisometropia (HP:0012803)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Anisometropia (HP:0012803)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
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: RERE
Phenotype: Epicanthus (HP:0000286)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
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: RERE
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: RERE
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: RERE
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)