TaoMedAI/RareMedData huggingface dataset:
Gene: BCL11A
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: BCL11A
Phenotype: Congenital onset (HP:0003577)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Increased red cell sickling tendency (HP:0008346)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: BCL11A
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: BCL11A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Severe infection (HP:0032169)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: BCL11A
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: BCL11A
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: HbS hemoglobin (HP:0045047)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: BCL11A
Phenotype: Splenic infarction (HP:0034336)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: BCL11A
Phenotype: Epicanthus (HP:0000286)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Retrognathia (HP:0000278)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Arthralgia (HP:0002829)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: BCL11A
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Cupped ear (HP:0000378)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Overfolded helix (HP:0000396)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Micrognathia (HP:0000347)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Retinopathy (HP:0000488)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: BCL11A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Asplenia (HP:0001746)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: BCL11A
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: BCL11A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: NUP54
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Hypertonia (HP:0001276)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Motor delay (HP:0001270)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Hypotonia (HP:0001252)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Ataxia (HP:0001251)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Ataxia (HP:0001251)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Dysarthria (HP:0001260)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Spasticity (HP:0001257)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Atrophy/Degeneration involving the caudate nucleus (HP:0007374)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Dystonia (HP:0001332)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Myoclonus (HP:0001336)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Floppy infant (HP:0008947)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Dysphagia (HP:0002015)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Dysphagia (HP:0002015)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Rigidity (HP:0002063)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Chorea (HP:0002072)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Babinski sign (HP:0003487)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Sleep apnea (HP:0010535)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Tetraparesis (HP:0002273)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Frequent falls (HP:0002359)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Developmental regression (HP:0002376)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Small basal ganglia (HP:0012697)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Leg dystonia (HP:0031959)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Basal ganglia gliosis (HP:0006999)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Childhood onset (HP:0011463)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Microcephaly (HP:0000252)
Associated disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Gene: NUP54
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Horizontal pendular nystagmus (HP:0007811)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP54
Phenotype: Basal ganglia cysts (HP:0006799)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: CLIC5
Phenotype: Vestibular areflexia (HP:0008568)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 103 (OMIM:616042)
Gene: CLIC5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 103 (OMIM:616042)
Gene: CLIC5
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 103 (OMIM:616042)
Gene: CLIC5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 103 (OMIM:616042)
Gene: CLIC5
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 103 (OMIM:616042)
Gene: ADAM22
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Open mouth (HP:0000194)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Apnea (HP:0002104)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: High palate (HP:0000218)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Narrow forehead (HP:0000341)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: ADAM22
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Gene: BCO1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:115300)
Gene: BCO1
Phenotype: Increased circulating beta-carotene concentration (HP:0430074)
Associated disease: HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:115300)
Gene: BCO1
Phenotype: Reduced circulating vitamin A concentration (HP:0004905)
Associated disease: HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:115300)
Gene: BCO1
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:115300)
Gene: FGFRL1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Split hand (HP:0001171)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Sporadic (HP:0003745)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Seizure (HP:0001250)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Hypospadias (HP:0000047)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Short upper lip (HP:0000188)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Cleft palate (HP:0000175)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Prominent glabella (HP:0002057)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Tethered cord (HP:0002144)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Malrotation of small bowel (HP:0004794)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)