TaoMedAI/RareMedData huggingface dataset:
Gene: PNKP
Phenotype: Motor delay (HP:0001270)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Gene: PNKP
Phenotype: Areflexia (HP:0001284)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: PNKP
Phenotype: Lethargy (HP:0001254)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Gene: PNKP
Phenotype: Seizure (HP:0001250)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Hypotonia (HP:0001252)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Gene: PNKP
Phenotype: Ataxia (HP:0001251)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Gene: PNKP
Phenotype: Ataxia (HP:0001251)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Ataxia (HP:0001251)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Gene: PNKP
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: PNKP
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Dysarthria (HP:0001260)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Gene: PNKP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Spasticity (HP:0001257)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Ureterocele (HP:0000070)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Micropenis (HP:0000054)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Dystonia (HP:0001332)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Dystonia (HP:0001332)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Dystonia (HP:0001332)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Gene: PNKP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: PNKP
Phenotype: Tremor (HP:0001337)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Myoclonus (HP:0001336)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Pachygyria (HP:0001302)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Cleft palate (HP:0000175)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Floppy infant (HP:0008947)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Poor suck (HP:0002033)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Dysphagia (HP:0002015)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Gene: PNKP
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Gene: PNKP
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: PNKP
Phenotype: Postural instability (HP:0002172)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Dyslexia (HP:0010522)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Adult onset (HP:0003581)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: PNKP
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: PNKP
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: EEG abnormality (HP:0002353)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Dyskinesia (HP:0100660)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Gene: PNKP
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Short attention span (HP:0000736)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Childhood onset (HP:0011463)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Gene: PNKP
Phenotype: Short finger (HP:0009381)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Gene: PNKP
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Gene: PNKP
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Broad finger (HP:0001500)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Obesity (HP:0001513)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Obesity (HP:0001513)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: PNKP
Phenotype: Sloping forehead (HP:0000340)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Uni- and bilateral multifocal epileptiform discharges (HP:0011190)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Strabismus (HP:0000486)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Abnormal toe morphology (HP:0001780)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Pes cavus (HP:0001761)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: B4GALT7
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B4GALT7
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome; EDS progeroid type 1; EDS with short stature and limb anomalies; spEDS-B4GALT7; B4GALT7-related spondylodysplastic EDS (ORPHA:75496)
Gene: B4GALT7
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 (OMIM:130070)
Gene: B4GALT7
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B4GALT7
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B4GALT7
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B4GALT7
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B4GALT7
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 (OMIM:130070)
Gene: B4GALT7
Phenotype: Testicular torsion (HP:0100813)
Associated disease: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome; EDS progeroid type 1; EDS with short stature and limb anomalies; spEDS-B4GALT7; B4GALT7-related spondylodysplastic EDS (ORPHA:75496)
Gene: B4GALT7
Phenotype: Motor delay (HP:0001270)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 (OMIM:130070)
Gene: B4GALT7
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B4GALT7
Phenotype: Hypotonia (HP:0001252)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 (OMIM:130070)
Gene: B4GALT7
Phenotype: Hypotonia (HP:0001252)
Associated disease: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome; EDS progeroid type 1; EDS with short stature and limb anomalies; spEDS-B4GALT7; B4GALT7-related spondylodysplastic EDS (ORPHA:75496)
Gene: B4GALT7
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B4GALT7
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B4GALT7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B4GALT7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B4GALT7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B4GALT7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome; EDS progeroid type 1; EDS with short stature and limb anomalies; spEDS-B4GALT7; B4GALT7-related spondylodysplastic EDS (ORPHA:75496)
Gene: B4GALT7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B4GALT7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B4GALT7
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B4GALT7
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B4GALT7
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B4GALT7
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B4GALT7
Phenotype: Tapered humerus (HP:0003883)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B4GALT7
Phenotype: Spatulate thumbs (HP:0001222)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B4GALT7
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B4GALT7
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)