TaoMedAI/RareMedData huggingface dataset:
Gene: PEX3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Flat occiput (HP:0005469)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Cataract (HP:0000518)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
Phenotype: Cataract (HP:0000518)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Cataract (HP:0000518)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Cataract (HP:0000518)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: Cataract (HP:0000518)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Ptosis (HP:0000508)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Glaucoma (HP:0000501)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: CNTNAP1
Phenotype: Hand clenching (HP:0001188)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Areflexia (HP:0001284)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Seizure (HP:0001250)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Gene: CNTNAP1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Spasticity (HP:0001257)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Neonatal death (HP:0003811)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Gene: CNTNAP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Facial diplegia (HP:0001349)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Facial diplegia (HP:0001349)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Dystonia (HP:0001332)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Gene: CNTNAP1
Phenotype: Narrow palate (HP:0000189)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Gene: CNTNAP1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Paralysis (HP:0003470)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Gene: CNTNAP1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Small basal ganglia (HP:0012697)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Cachexia (HP:0004326)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Third trimester onset (HP:0034197)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Retrognathia (HP:0000278)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: High palate (HP:0000218)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Hypomimic face (HP:0000338)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Gene: CNTNAP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Ptosis (HP:0000508)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: CNTNAP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Gene: MMP23B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Poor speech (HP:0002465)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Ocular albinism (HP:0001107)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Microtia (HP:0008551)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Seizure (HP:0001250)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Hypotonia (HP:0001252)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Polyphagia (HP:0002591)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Abnormal female external genitalia morphology (HP:0000055)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Joint stiffness (HP:0001387)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Hypospadias (HP:0000047)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Absent speech (HP:0001344)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Scoliosis (HP:0002650)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Narrow mouth (HP:0000160)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Hypogonadism (HP:0000135)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Renal cyst (HP:0000107)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Constipation (HP:0002019)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Dysphagia (HP:0002015)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Midface retrusion (HP:0011800)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Telangiectasia (HP:0001009)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: EEG abnormality (HP:0002353)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: High hypermetropia (HP:0008499)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Nystagmus (HP:0000639)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Short stature (HP:0004322)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Abnormality of the anus (HP:0004378)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Macule (HP:0012733)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: MMP23B
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)