TaoMedAI/RareMedData huggingface dataset:
Gene: SOX10
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SOX10
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Gene: SOX10
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SOX10
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Olfactory lobe agenesis (HP:0001341)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
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: SOX10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SOX10
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Tremor (HP:0001337)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Tremor (HP:0001337)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Gene: SOX10
Phenotype: Myoclonus (HP:0001336)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Cleft palate (HP:0000175)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Hypogonadism (HP:0000135)
Associated disease: WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Gene: SOX10
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Portal hypertension (HP:0001409)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Constipation (HP:0002019)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Constipation (HP:0002019)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Paraplegia (HP:0010550)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Congenital onset (HP:0003577)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Gene: SOX10
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SOX10
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Gene: SOX10
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SOX10
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SOX10
Phenotype: White eyelashes (HP:0002227)
Associated disease: WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Gene: SOX10
Phenotype: White eyelashes (HP:0002227)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: White eyelashes (HP:0002227)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: White eyelashes (HP:0002227)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SOX10
Phenotype: White eyebrow (HP:0002226)
Associated disease: WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Gene: SOX10
Phenotype: White eyebrow (HP:0002226)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: White eyebrow (HP:0002226)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: White eyebrow (HP:0002226)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: White forelock (HP:0002211)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SOX10
Phenotype: White forelock (HP:0002211)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: White forelock (HP:0002211)
Associated disease: WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Gene: SOX10
Phenotype: White forelock (HP:0002211)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: White forelock (HP:0002211)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: White forelock (HP:0002211)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Gene: SOX10
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SOX10
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SOX10
Phenotype: Peripheral hypomyelination (HP:0007182)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SOX10
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Nystagmus (HP:0000639)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Nystagmus (HP:0000639)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Nystagmus (HP:0000639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Nystagmus (HP:0000639)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Blue irides (HP:0000635)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Blue irides (HP:0000635)
Associated disease: WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Gene: SOX10
Phenotype: Blue irides (HP:0000635)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Decreased lacrimation (HP:0000633)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Decreased lacrimation (HP:0000633)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Dilated vestibule of the inner ear (HP:0011379)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Hypoplasia of the semicircular canal (HP:0011382)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Hypoplasia of the semicircular canal (HP:0011382)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Aplasia of the semicircular canal (HP:0011381)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Abnormal morphology of the vestibule of the inner ear (HP:0011376)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Synophrys (HP:0000664)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Synophrys (HP:0000664)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Myelin outfoldings (HP:0004336)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Dysmyelinating leukodystrophy (HP:0006978)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Dysmyelinating leukodystrophy (HP:0006978)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Microcolon (HP:0004388)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SOX10
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Fetal onset (HP:0011461)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SOX10
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SOX10
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SOX10
Phenotype: Hyposmia (HP:0004409)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SOX10
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Absent brainstem auditory responses (HP:0004463)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Lacrimal gland hypoplasia (HP:0007732)
Associated disease: WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Gene: SOX10
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)