TaoMedAI/RareMedData huggingface dataset:
Gene: IYD
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THYROID DYSHORMONOGENESIS 4 (OMIM:274800)
Gene: IYD
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Positive perchlorate discharge test (HP:0025482)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Macroglossia (HP:0000158)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Reduced radioactive iodine uptake (HP:0031219)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Increased radioactive iodine uptake (HP:0031220)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Constipation (HP:0002019)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Hypothermia (HP:0002045)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Thyroid defect in oxidation and organification of iodide (HP:0008263)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Maternal autoimmune disease (HP:0011437)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Large posterior fontanelle (HP:0004491)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Goiter (HP:0000853)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Goiter (HP:0000853)
Associated disease: THYROID DYSHORMONOGENESIS 4 (OMIM:274800)
Gene: IYD
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: THYROID DYSHORMONOGENESIS 4 (OMIM:274800)
Gene: IYD
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Facial edema (HP:0000282)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Growth delay (HP:0001510)
Associated disease: THYROID DYSHORMONOGENESIS 4 (OMIM:274800)
Gene: IYD
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Bradycardia (HP:0001662)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: FEZF1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FEZF1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
Gene: FEZF1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FEZF1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FEZF1
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
Gene: FEZF1
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FEZF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
Gene: FEZF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FEZF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
Gene: FEZF1
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Tremor (HP:0001337)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
Gene: FEZF1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Paraplegia (HP:0010550)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
Gene: FEZF1
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FEZF1
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FEZF1
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FEZF1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
Gene: FEZF1
Phenotype: Reduced response to gonadotropin-releasing hormone stimulation test (HP:0020159)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
Gene: FEZF1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FEZF1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
Gene: FEZF1
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FEZF1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FEZF1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
Gene: FEZF1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Hyposmia (HP:0004409)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FEZF1
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
Gene: FEZF1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Obesity (HP:0001513)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Anosmia (HP:0000458)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
Gene: FEZF1
Phenotype: Anosmia (HP:0000458)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Pes planus (HP:0001763)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Ptosis (HP:0000508)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FEZF1
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
Gene: FEZF1
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
Gene: FEZF1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: MAFA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INSULINOMATOSIS AND DIABETES MELLITUS (OMIM:147630)
Gene: MAFA
Phenotype: Insulinoma (HP:0012197)
Associated disease: INSULINOMATOSIS AND DIABETES MELLITUS (OMIM:147630)
Gene: MAFA
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: INSULINOMATOSIS AND DIABETES MELLITUS (OMIM:147630)
Gene: MAFA
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: INSULINOMATOSIS AND DIABETES MELLITUS (OMIM:147630)
Gene: MAFA
Phenotype: Multiple pancreatic beta-cell adenomas (HP:0008194)
Associated disease: INSULINOMATOSIS AND DIABETES MELLITUS (OMIM:147630)
Gene: MAFA
Phenotype: Middle age onset (HP:0003596)
Associated disease: INSULINOMATOSIS AND DIABETES MELLITUS (OMIM:147630)
Gene: MAFA
Phenotype: Late onset (HP:0003584)
Associated disease: INSULINOMATOSIS AND DIABETES MELLITUS (OMIM:147630)
Gene: MAFA
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: INSULINOMATOSIS AND DIABETES MELLITUS (OMIM:147630)
Gene: MAFA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: INSULINOMATOSIS AND DIABETES MELLITUS (OMIM:147630)
Gene: MAFA
Phenotype: Young adult onset (HP:0011462)
Associated disease: INSULINOMATOSIS AND DIABETES MELLITUS (OMIM:147630)
Gene: MAFA
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: INSULINOMATOSIS AND DIABETES MELLITUS (OMIM:147630)
Gene: MAFA
Phenotype: Developmental cataract (HP:0000519)
Associated disease: INSULINOMATOSIS AND DIABETES MELLITUS (OMIM:147630)
Gene: MYMK
Phenotype: Tapered finger (HP:0001182)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Motor delay (HP:0001270)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Seizure (HP:0001250)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Hypotonia (HP:0001252)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Hypotonia (HP:0001252)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Bowel irritability (HP:0033628)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Scoliosis (HP:0002650)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Glossoptosis (HP:0000162)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Cleft palate (HP:0000175)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Cleft palate (HP:0000175)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Microglossia (HP:0000171)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Pectoralis hypoplasia (HP:0008998)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Dysphagia (HP:0002015)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Infantile onset (HP:0003593)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Hypertensive crisis (HP:0100735)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Facial palsy (HP:0010628)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Facial palsy (HP:0010628)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)