TaoMedAI/RareMedData huggingface dataset:
Gene: KRT83
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT83
Phenotype: Skin plaque (HP:0200035)
Associated disease: Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia; Progressive symmetric erythrokeratodermia, Gottron type; Darier-Gottron disease (ORPHA:316)
Gene: KRT83
Phenotype: Erythema (HP:0010783)
Associated disease: Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia; Progressive symmetric erythrokeratodermia, Gottron type; Darier-Gottron disease (ORPHA:316)
Gene: KRT83
Phenotype: Childhood onset (HP:0011463)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 (OMIM:617756)
Gene: KRT83
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 (OMIM:617756)
Gene: KRT83
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia; Progressive symmetric erythrokeratodermia, Gottron type; Darier-Gottron disease (ORPHA:316)
Gene: KRT83
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 (OMIM:617756)
Gene: KRT83
Phenotype: Sparse hair (HP:0008070)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT83
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 (OMIM:617756)
Gene: KRT83
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT83
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT83
Phenotype: Cataract (HP:0000518)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT83
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 (OMIM:617756)
Gene: KRT83
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT85
Phenotype: Pili torti (HP:0003777)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT85
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT85
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT85
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT85
Phenotype: Congenital onset (HP:0003577)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT85
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT85
Phenotype: Sparse body hair (HP:0002231)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT85
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT85
Phenotype: Brittle hair (HP:0002299)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT85
Phenotype: Congenital onychodystrophy (HP:0008394)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT85
Phenotype: Temporal hypotrichosis (HP:0004524)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT85
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT85
Phenotype: Abnormal sweat gland morphology (HP:0000971)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT85
Phenotype: Alopecia (HP:0001596)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT85
Phenotype: Onycholysis (HP:0001806)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT85
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Gene: KRT86
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT86
Phenotype: Variable expressivity (HP:0003828)
Associated disease: MONILETHRIX (OMIM:158000)
Gene: KRT86
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT86
Phenotype: Perifollicular hyperkeratosis (HP:0007468)
Associated disease: MONILETHRIX (OMIM:158000)
Gene: KRT86
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MONILETHRIX (OMIM:158000)
Gene: KRT86
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT86
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT86
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: MONILETHRIX (OMIM:158000)
Gene: KRT86
Phenotype: Infantile onset (HP:0003593)
Associated disease: MONILETHRIX (OMIM:158000)
Gene: KRT86
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT86
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT86
Phenotype: Fine hair (HP:0002213)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT86
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: MONILETHRIX (OMIM:158000)
Gene: KRT86
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: MONILETHRIX (OMIM:158000)
Gene: KRT86
Phenotype: Brittle hair (HP:0002299)
Associated disease: MONILETHRIX (OMIM:158000)
Gene: KRT86
Phenotype: Brittle hair (HP:0002299)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT86
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT86
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: MONILETHRIX (OMIM:158000)
Gene: KRT86
Phenotype: Sparse hair (HP:0008070)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT86
Phenotype: Sparse hair (HP:0008070)
Associated disease: MONILETHRIX (OMIM:158000)
Gene: KRT86
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT86
Phenotype: Alopecia (HP:0001596)
Associated disease: MONILETHRIX (OMIM:158000)
Gene: KRT86
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT86
Phenotype: Cataract (HP:0000518)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT86
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: L1CAM
Phenotype: Hand clenching (HP:0001188)
Associated disease: Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; MASA syndrome (ORPHA:2466)
Gene: L1CAM
Phenotype: Adducted thumb (HP:0001181)
Associated disease: SPG1; X-linked complicated spastic paraplegia type 1 (ORPHA:306617)
Gene: L1CAM
Phenotype: Adducted thumb (HP:0001181)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Adducted thumb (HP:0001181)
Associated disease: HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS (OMIM:307000)
Gene: L1CAM
Phenotype: Adducted thumb (HP:0001181)
Associated disease: X-linked hydrocephalus with stenosis of aqueduct of Sylvius; Bickers-Adams syndrome; X-linked HSAS; Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked acqueductal stenosis; HSAS; X-linked hydrocephalus (ORPHA:2182)
Gene: L1CAM
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: SPG1; X-linked complicated spastic paraplegia type 1 (ORPHA:306617)
Gene: L1CAM
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: X-linked hydrocephalus with stenosis of aqueduct of Sylvius; Bickers-Adams syndrome; X-linked HSAS; Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked acqueductal stenosis; HSAS; X-linked hydrocephalus (ORPHA:2182)
Gene: L1CAM
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS (OMIM:307000)
Gene: L1CAM
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: X-linked hydrocephalus with stenosis of aqueduct of Sylvius; Bickers-Adams syndrome; X-linked HSAS; Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked acqueductal stenosis; HSAS; X-linked hydrocephalus (ORPHA:2182)
Gene: L1CAM
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; MASA syndrome (ORPHA:2466)
Gene: L1CAM
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS (OMIM:307000)
Gene: L1CAM
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: X-linked hydrocephalus with stenosis of aqueduct of Sylvius; Bickers-Adams syndrome; X-linked HSAS; Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked acqueductal stenosis; HSAS; X-linked hydrocephalus (ORPHA:2182)
Gene: L1CAM
Phenotype: Mental deterioration (HP:0001268)
Associated disease: SPG1; X-linked complicated spastic paraplegia type 1 (ORPHA:306617)
Gene: L1CAM
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; MASA syndrome (ORPHA:2466)
Gene: L1CAM
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPG1; X-linked complicated spastic paraplegia type 1 (ORPHA:306617)
Gene: L1CAM
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked complicated corpus callosum dysgenesis (ORPHA:1497)
Gene: L1CAM
Phenotype: Seizure (HP:0001250)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked hydrocephalus with stenosis of aqueduct of Sylvius; Bickers-Adams syndrome; X-linked HSAS; Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked acqueductal stenosis; HSAS; X-linked hydrocephalus (ORPHA:2182)
Gene: L1CAM
Phenotype: Ataxia (HP:0001251)
Associated disease: SPG1; X-linked complicated spastic paraplegia type 1 (ORPHA:306617)
Gene: L1CAM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: X-linked complicated corpus callosum dysgenesis (ORPHA:1497)
Gene: L1CAM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS (OMIM:307000)
Gene: L1CAM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; MASA syndrome (ORPHA:2466)
Gene: L1CAM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPG1; X-linked complicated spastic paraplegia type 1 (ORPHA:306617)
Gene: L1CAM
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS (OMIM:307000)
Gene: L1CAM
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; MASA syndrome (ORPHA:2466)
Gene: L1CAM
Phenotype: Spasticity (HP:0001257)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Spasticity (HP:0001257)
Associated disease: HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS (OMIM:307000)
Gene: L1CAM
Phenotype: Spasticity (HP:0001257)
Associated disease: X-linked hydrocephalus with stenosis of aqueduct of Sylvius; Bickers-Adams syndrome; X-linked HSAS; Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked acqueductal stenosis; HSAS; X-linked hydrocephalus (ORPHA:2182)
Gene: L1CAM
Phenotype: Spasticity (HP:0001257)
Associated disease: X-linked complicated corpus callosum dysgenesis (ORPHA:1497)
Gene: L1CAM
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPG1; X-linked complicated spastic paraplegia type 1 (ORPHA:306617)
Gene: L1CAM
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: X-linked hydrocephalus with stenosis of aqueduct of Sylvius; Bickers-Adams syndrome; X-linked HSAS; Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked acqueductal stenosis; HSAS; X-linked hydrocephalus (ORPHA:2182)
Gene: L1CAM
Phenotype: Interhemispheric cyst (HP:0032327)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Joint stiffness (HP:0001387)
Associated disease: X-linked hydrocephalus with stenosis of aqueduct of Sylvius; Bickers-Adams syndrome; X-linked HSAS; Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked acqueductal stenosis; HSAS; X-linked hydrocephalus (ORPHA:2182)
Gene: L1CAM
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; MASA syndrome (ORPHA:2466)
Gene: L1CAM
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: X-linked hydrocephalus with stenosis of aqueduct of Sylvius; Bickers-Adams syndrome; X-linked HSAS; Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked acqueductal stenosis; HSAS; X-linked hydrocephalus (ORPHA:2182)
Gene: L1CAM
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS (OMIM:307000)
Gene: L1CAM
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: X-linked hydrocephalus with stenosis of aqueduct of Sylvius; Bickers-Adams syndrome; X-linked HSAS; Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked acqueductal stenosis; HSAS; X-linked hydrocephalus (ORPHA:2182)
Gene: L1CAM
Phenotype: Muscle weakness (HP:0001324)
Associated disease: X-linked complicated corpus callosum dysgenesis (ORPHA:1497)
Gene: L1CAM
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: X-linked complicated corpus callosum dysgenesis (ORPHA:1497)
Gene: L1CAM
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS (OMIM:307000)
Gene: L1CAM
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPG1; X-linked complicated spastic paraplegia type 1 (ORPHA:306617)
Gene: L1CAM
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; MASA syndrome (ORPHA:2466)
Gene: L1CAM
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Thumb contracture (HP:0009600)
Associated disease: HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS (OMIM:307000)
Gene: L1CAM
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; MASA syndrome (ORPHA:2466)
Gene: L1CAM
Phenotype: Paraplegia (HP:0010550)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: X-linked complicated corpus callosum dysgenesis (ORPHA:1497)
Gene: L1CAM
Phenotype: Corticospinal tract hypoplasia (HP:0007016)
Associated disease: HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS (OMIM:307000)
Gene: L1CAM
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Aphasia (HP:0002381)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Aphasia (HP:0002381)
Associated disease: Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; MASA syndrome (ORPHA:2466)
Gene: L1CAM
Phenotype: Shuffling gait (HP:0002362)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: SPG1; X-linked complicated spastic paraplegia type 1 (ORPHA:306617)
Gene: L1CAM
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; MASA syndrome (ORPHA:2466)
Gene: L1CAM
Phenotype: Nystagmus (HP:0000639)
Associated disease: X-linked hydrocephalus with stenosis of aqueduct of Sylvius; Bickers-Adams syndrome; X-linked HSAS; Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked acqueductal stenosis; HSAS; X-linked hydrocephalus (ORPHA:2182)
Gene: L1CAM
Phenotype: Short stature (HP:0004322)
Associated disease: Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; MASA syndrome (ORPHA:2466)
Gene: L1CAM
Phenotype: Short stature (HP:0004322)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: X-linked hydrocephalus with stenosis of aqueduct of Sylvius; Bickers-Adams syndrome; X-linked HSAS; Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked acqueductal stenosis; HSAS; X-linked hydrocephalus (ORPHA:2182)
Gene: L1CAM
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; MASA syndrome (ORPHA:2466)
Gene: L1CAM
Phenotype: Second trimester onset (HP:0034198)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; MASA syndrome (ORPHA:2466)
Gene: L1CAM
Phenotype: Coarse facial features (HP:0000280)
Associated disease: X-linked hydrocephalus with stenosis of aqueduct of Sylvius; Bickers-Adams syndrome; X-linked HSAS; Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked acqueductal stenosis; HSAS; X-linked hydrocephalus (ORPHA:2182)
Gene: L1CAM
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS (OMIM:307000)
Gene: L1CAM
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Kyphosis (HP:0002808)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS (OMIM:307000)
Gene: L1CAM
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: X-linked hydrocephalus with stenosis of aqueduct of Sylvius; Bickers-Adams syndrome; X-linked HSAS; Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked acqueductal stenosis; HSAS; X-linked hydrocephalus (ORPHA:2182)
Gene: L1CAM
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Microcephaly (HP:0000252)
Associated disease: X-linked complicated corpus callosum dysgenesis (ORPHA:1497)
Gene: L1CAM
Phenotype: Microcephaly (HP:0000252)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Microcephaly (HP:0000252)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: High palate (HP:0000218)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Strabismus (HP:0000486)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Strabismus (HP:0000486)
Associated disease: X-linked hydrocephalus with stenosis of aqueduct of Sylvius; Bickers-Adams syndrome; X-linked HSAS; Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked acqueductal stenosis; HSAS; X-linked hydrocephalus (ORPHA:2182)
Gene: L1CAM
Phenotype: Strabismus (HP:0000486)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Pes planus (HP:0001763)
Associated disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Gene: L1CAM
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: L1CAM
Phenotype: Pes cavus (HP:0001761)
Associated disease: MASA SYNDROME (OMIM:303350)
Gene: AFF3
Phenotype: Bruxism (HP:0003763)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Hypotonia (HP:0001252)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)