TaoMedAI/RareMedData huggingface dataset:
Gene: NEXMIF
Phenotype: Frontal balding (HP:0002292)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Unsteady gait (HP:0002317)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Lack of peer relationships (HP:0002332)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Atonic seizure (HP:0010819)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Drooling (HP:0002307)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Autistic behavior (HP:0000729)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Short nose (HP:0003196)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Short nose (HP:0003196)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Long nose (HP:0003189)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Broad philtrum (HP:0000289)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Microcephaly (HP:0000252)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Steroid-dependent nephrotic syndrome (HP:0025650)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Long philtrum (HP:0000343)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Tonic seizure (HP:0032792)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Round face (HP:0000311)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Short philtrum (HP:0000322)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: EEG with focal spike waves (HP:0011197)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Generalized myoclonic-atonic seizure (HP:0011170)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Infantile spasms (HP:0012469)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Prominent forehead (HP:0011220)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Microphthalmia (HP:0000568)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Esotropia (HP:0000565)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Esotropia (HP:0000565)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: CYP26C1
Phenotype: Fragmented elastic fibers in the dermis (HP:0025167)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Nevus (HP:0003764)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 4 (OMIM:614974)
Gene: CYP26C1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Abnormal mast cell morphology (HP:0100494)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Hemangioma (HP:0001028)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Scarring (HP:0100699)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Bitemporal forceps marks (HP:0011336)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 4 (OMIM:614974)
Gene: CYP26C1
Phenotype: Abnormal cheek morphology (HP:0004426)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Short chin (HP:0000331)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Abnormal buccal mucosa morphology (HP:3000019)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: CYP26C1
Phenotype: Abnormal epidermal morphology (HP:0011124)
Associated disease: Focal facial preauricular dysplasia; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial dermal dysplasia type IV (ORPHA:398189)
Gene: NANOS1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: NANOS1
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: NANOS1
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: NANOS1
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE 12 (OMIM:615413)
Gene: NANOS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPERMATOGENIC FAILURE 12 (OMIM:615413)
Gene: NANOS1
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: NANOS1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: NANOS1
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: NANOS1
Phenotype: Infertility (HP:0000789)
Associated disease: SPERMATOGENIC FAILURE 12 (OMIM:615413)
Gene: NANOS1
Phenotype: Abnormal male germ cell morphology (HP:0012863)
Associated disease: SPERMATOGENIC FAILURE 12 (OMIM:615413)
Gene: NANOS1
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: OTOG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B (OMIM:614945)
Gene: OTOG
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B (OMIM:614945)
Gene: OTOG
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B (OMIM:614945)
Gene: OTOG
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B (OMIM:614945)
Gene: OTOG
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B (OMIM:614945)
Gene: HEPHL1
Phenotype: Poor speech (HP:0002465)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Pili torti (HP:0003777)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Trichorrhexis nodosa (HP:0009886)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Snoring (HP:0025267)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Dysarthria (HP:0001260)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Clinodactyly of the 4th toe (HP:0011918)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Short fifth metatarsal (HP:0004704)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Impulsivity (HP:0100710)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Developmental regression (HP:0002376)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Microdontia (HP:0000691)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Increased carrying angle (HP:0003102)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Elfin facies (HP:0004428)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Alopecia (HP:0001596)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Fatigue (HP:0012378)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Small nail (HP:0001792)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Fragile nails (HP:0001808)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Clinodactyly of the 5th toe (HP:0001864)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: HEPHL1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Gene: FREM2
Phenotype: Cryptophthalmos (HP:0001126)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)