TaoMedAI/RareMedData huggingface dataset:
Gene: SYT1
Phenotype: Absent speech (HP:0001344)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Self-biting (HP:0012169)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Floppy infant (HP:0008947)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Vomiting (HP:0002013)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Chorea (HP:0002072)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Abnormal location of the eyebrow (HP:0040296)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Intermittent hyperventilation (HP:0004879)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Nystagmus (HP:0000639)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Nystagmus (HP:0000639)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Anxiety (HP:0000739)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Self-mutilation (HP:0000742)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Agitation (HP:0000713)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Athetoid cerebral palsy (HP:0011445)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Athetoid cerebral palsy (HP:0011445)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Short nose (HP:0003196)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Short nose (HP:0003196)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Progressive flexion contractures (HP:0005876)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Hemiballismus (HP:0100248)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Pes valgus (HP:0008081)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Epicanthus (HP:0000286)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Epicanthus (HP:0000286)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Hyperventilation (HP:0002883)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Central apnea (HP:0002871)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Widow's peak (HP:0000349)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: High forehead (HP:0000348)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: EEG with focal sharp waves (HP:0011196)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: EEG with series of focal spikes (HP:0011194)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Strabismus (HP:0000486)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Strabismus (HP:0000486)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Visual impairment (HP:0000505)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Esotropia (HP:0000565)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: TBXT
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: TBXT
Phenotype: Neonatal death (HP:0003811)
Associated disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES (OMIM:615709)
Gene: TBXT
Phenotype: Lipoma (HP:0012032)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: TBXT
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: TBXT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES (OMIM:615709)
Gene: TBXT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: TBXT
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES (OMIM:615709)
Gene: TBXT
Phenotype: Anal atresia (HP:0002023)
Associated disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES (OMIM:615709)
Gene: TBXT
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES (OMIM:615709)
Gene: TBXT
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: TBXT
Phenotype: Anencephaly (HP:0002323)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: TBXT
Phenotype: Asymmetry of spinal facet joints (HP:0008482)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: TBXT
Phenotype: Vertebral clefting (HP:0008428)
Associated disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES (OMIM:615709)
Gene: TBXT
Phenotype: Persistent cloaca (HP:0012621)
Associated disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES (OMIM:615709)
Gene: TBXT
Phenotype: Late first trimester onset (HP:0034199)
Associated disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES (OMIM:615709)
Gene: TBXT
Phenotype: Second trimester onset (HP:0034198)
Associated disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES (OMIM:615709)
Gene: TBXT
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: TBXT
Phenotype: Absence of the sacrum (HP:0010305)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: TBXT
Phenotype: Absence of the sacrum (HP:0010305)
Associated disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES (OMIM:615709)
Gene: TBXT
Phenotype: Sacral dimple (HP:0000960)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: TBXT
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: TAC3
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA (OMIM:614839)
Gene: TAC3
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: TAC3
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA (OMIM:614839)
Gene: TAC3
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: TAC3
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: TAC3
Phenotype: Micropenis (HP:0000054)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: TAC3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Azoospermia (HP:0000027)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: TAC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA (OMIM:614839)
Gene: TAC3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Cleft palate (HP:0000175)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: TAC3
Phenotype: Sparse body hair (HP:0002231)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: TAC3
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: TAC3
Phenotype: Impotence (HP:0000802)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Gynecomastia (HP:0000771)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: TAC3
Phenotype: Anxiety (HP:0000739)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Depression (HP:0000716)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: TAC3
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)