TaoMedAI/RareMedData huggingface dataset:
Gene: ATOH7
Phenotype: Ectopic calcification (HP:0010766)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Amblyopia (HP:0000646)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Blindness (HP:0000618)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Iris coloboma (HP:0000612)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Posterior synechiae of the anterior chamber (HP:0011484)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Hyaloid vascular remnant and retrolental mass (HP:0030744)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Glial remnants anterior to the optic disc (HP:0030743)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Retinal fold (HP:0008052)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Retinal fold (HP:0008052)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Retinal nonattachment (HP:0007899)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Corneal opacity (HP:0007957)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Corneal opacity (HP:0007957)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Tractional retinal detachment (HP:0007917)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Strabismus (HP:0000486)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Microcornea (HP:0000482)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Microcornea (HP:0000482)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Cataract (HP:0000518)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Cataract (HP:0000518)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Developmental cataract (HP:0000519)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Glaucoma (HP:0000501)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Buphthalmos (HP:0000557)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Buphthalmos (HP:0000557)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Uveitis (HP:0000554)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Leukocoria (HP:0000555)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Leukocoria (HP:0000555)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Microphthalmia (HP:0000568)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Microphthalmia (HP:0000568)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Esotropia (HP:0000565)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: HEPACAM
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Lymphoid nodular hyperplasia (HP:0032203)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Hypertonia (HP:0001276)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Motor delay (HP:0001270)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Motor delay (HP:0001270)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Gene: HEPACAM
Phenotype: Motor delay (HP:0001270)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Motor delay (HP:0001270)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: HEPACAM
Phenotype: Mental deterioration (HP:0001268)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Mental deterioration (HP:0001268)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: HEPACAM
Phenotype: Seizure (HP:0001250)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Seizure (HP:0001250)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Gene: HEPACAM
Phenotype: Seizure (HP:0001250)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Seizure (HP:0001250)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Seizure (HP:0001250)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: HEPACAM
Phenotype: Hypotonia (HP:0001252)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Gene: HEPACAM
Phenotype: Hypotonia (HP:0001252)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Ataxia (HP:0001251)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Ataxia (HP:0001251)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Ataxia (HP:0001251)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: HEPACAM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Gene: HEPACAM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Dysarthria (HP:0001260)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Spasticity (HP:0001257)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Spasticity (HP:0001257)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: HEPACAM
Phenotype: Diffuse swelling of cerebral white matter (HP:0007341)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Diffuse swelling of cerebral white matter (HP:0007341)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: HEPACAM
Phenotype: Diffuse swelling of cerebral white matter (HP:0007341)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Diffuse swelling of cerebral white matter (HP:0007341)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Gene: HEPACAM
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Megalencephaly (HP:0001355)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: HEPACAM
Phenotype: Megalencephaly (HP:0001355)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Megalencephaly (HP:0001355)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Gene: HEPACAM
Phenotype: Dystonia (HP:0001332)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Absent speech (HP:0001344)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Gene: HEPACAM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: HEPACAM
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Gene: HEPACAM
Phenotype: Dysphagia (HP:0002015)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Infantile onset (HP:0003593)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Infantile onset (HP:0003593)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Gene: HEPACAM
Phenotype: Infantile onset (HP:0003593)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: HEPACAM
Phenotype: Congenital onset (HP:0003577)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Congenital onset (HP:0003577)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Gene: HEPACAM
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Numerous nevi (HP:0001054)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Unsteady gait (HP:0002317)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Motor deterioration (HP:0002333)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Gene: HEPACAM
Phenotype: Cerebral subcortical cyst (HP:6000461)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Clumsiness (HP:0002312)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Gene: HEPACAM
Phenotype: Clumsiness (HP:0002312)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Athetosis (HP:0002305)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Diffuse spongiform leukoencephalopathy (HP:0006943)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: HEPACAM
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Gene: HEPACAM
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Autism (HP:0000717)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Atypical behavior (HP:0000708)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Childhood onset (HP:0011463)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: HEPACAM
Phenotype: Short nose (HP:0003196)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Gene: HEPACAM
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Gene: HEPACAM
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: HEPACAM
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Penile freckling (HP:0031447)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: HEPACAM
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)