TaoMedAI/RareMedData huggingface dataset:
Gene: PEX10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Spasticity (HP:0001257)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Neonatal death (HP:0003811)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Hypospadias (HP:0000047)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Pachygyria (HP:0001302)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Abnormality of the tongue (HP:0000157)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Renal cyst (HP:0000107)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Decreased liver function (HP:0001410)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Decreased liver function (HP:0001410)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Malabsorption (HP:0002024)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Intention tremor (HP:0002080)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Limb ataxia (HP:0002070)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Elevated circulating phytanic acid concentration (HP:0010571)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Elevated circulating phytanic acid concentration (HP:0010571)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Congenital onset (HP:0003577)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Facial palsy (HP:0010628)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Developmental regression (HP:0002376)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Slowly progressive (HP:0003677)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Unsteady gait (HP:0002317)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Brushfield spots (HP:0001088)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Nystagmus (HP:0000639)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Nystagmus (HP:0000639)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Nystagmus (HP:0000639)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Nystagmus (HP:0000639)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Short stature (HP:0004322)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Short stature (HP:0004322)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Short stature (HP:0004322)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Mydriasis (HP:0011499)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Childhood onset (HP:0011463)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Jaundice (HP:0000952)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Epicanthus (HP:0000286)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Microcephaly (HP:0000252)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: High palate (HP:0000218)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Death in infancy (HP:0001522)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Colpocephaly (HP:0030048)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Flat face (HP:0012368)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Low-set ears (HP:0000369)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: High forehead (HP:0000348)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: High forehead (HP:0000348)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Micrognathia (HP:0000347)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Premature birth (HP:0001622)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)