TaoMedAI/RareMedData huggingface dataset:
Gene: TRIP4
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Motor delay (HP:0001270)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Areflexia (HP:0001284)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Inability to walk (HP:0002540)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Narrow mouth (HP:0000160)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Axonal loss (HP:0003447)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Abnormal elasticity of skin (HP:0010647)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Angulated muscle fibers (HP:0034045)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Joint contracture (HP:0034392)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Dry skin (HP:0000958)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Dry skin (HP:0000958)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Pes valgus (HP:0008081)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Pes valgus (HP:0008081)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: High palate (HP:0000218)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: High palate (HP:0000218)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: High palate (HP:0000218)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Overweight (HP:0025502)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Weak cry (HP:0001612)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Premature birth (HP:0001622)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Microretrognathia (HP:0000308)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Gene: TRIP4
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: ZNHIT3
Phenotype: Tapered finger (HP:0001182)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Tapered finger (HP:0001182)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Seizure (HP:0001250)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Seizure (HP:0001250)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Edema of the dorsum of feet (HP:0012098)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Myoclonus (HP:0001336)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Pachygyria (HP:0001302)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Open mouth (HP:0000194)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Open mouth (HP:0000194)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Abnormal upper lip morphology (HP:0000177)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Palpebral edema (HP:0100540)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Peripheral dysmyelination (HP:0003469)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Drowsiness (HP:0002329)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Pedal edema (HP:0010741)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Infantile encephalopathy (HP:0007105)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Short nose (HP:0003196)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Short nose (HP:0003196)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Edema (HP:0000969)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Epicanthus (HP:0000286)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Epicanthus (HP:0000286)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Retrognathia (HP:0000278)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Full cheeks (HP:0000293)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Full cheeks (HP:0000293)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Malar flattening (HP:0000272)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)