TaoMedAI/RareMedData huggingface dataset:
Gene: YARS1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Gene: YARS1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Gene: YARS1
Phenotype: Infra-orbital fold (HP:0011232)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: PDXK
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Progressive (HP:0003676)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Claw hand deformity (HP:0034337)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Hammertoe (HP:0001765)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Color vision defect (HP:0000551)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: PDXK
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Gene: MADD
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Decreased circulating free T3 (HP:0032210)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Motor delay (HP:0001270)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Seizure (HP:0001250)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Death in childhood (HP:0003819)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Death in childhood (HP:0003819)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Micropenis (HP:0000054)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Micropenis (HP:0000054)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Narrow palate (HP:0000189)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Cervical hemivertebrae (HP:0025481)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Narrow mouth (HP:0000160)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Malabsorption (HP:0002024)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Dysphagia (HP:0002015)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: C1-C2 subluxation (HP:0003320)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Decreased hemoglobin concentration (HP:0020062)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Decreased hemoglobin concentration (HP:0020062)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: EEG abnormality (HP:0002353)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Low insertion of columella (HP:0010763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Decreased heart rate variability (HP:0031861)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Decreased heart rate variability (HP:0031861)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Dental crowding (HP:0000678)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Decreased body weight (HP:0004325)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Decreased body weight (HP:0004325)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Short stature (HP:0004322)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Self-mutilation (HP:0000742)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Self-mutilation (HP:0000742)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Death in adolescence (HP:0011421)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Short nose (HP:0003196)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Short nose (HP:0003196)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Decreased circulating free T4 concentration (HP:0033078)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Epicanthus (HP:0000286)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Retrognathia (HP:0000278)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Kyphosis (HP:0002808)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: High palate (HP:0000218)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Death in infancy (HP:0001522)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Low-set ears (HP:0000369)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Narrow forehead (HP:0000341)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Long philtrum (HP:0000343)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Broad forehead (HP:0000337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: High forehead (HP:0000348)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: High forehead (HP:0000348)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Short philtrum (HP:0000322)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Pointed chin (HP:0000307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Strabismus (HP:0000486)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Chronic constipation (HP:0012450)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Chronic constipation (HP:0012450)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Short neck (HP:0000470)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Increased femoral anteversion (HP:0012427)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Alacrima (HP:0000522)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Alacrima (HP:0000522)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Exotropia (HP:0000577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Esotropia (HP:0000565)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Hypermetropia (HP:0000540)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Extra-axial cerebrospinal fluid accumulation (HP:0012510)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Extra-axial cerebrospinal fluid accumulation (HP:0012510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: MADD
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Gene: MADD
Phenotype: Myopia (HP:0000545)
Associated disease: DEEAH SYNDROME (OMIM:619004)
Gene: PDLIM4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOPOROSIS (OMIM:166710)
Gene: PDLIM4
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS (OMIM:166710)
Gene: CASK
Phenotype: Decreased glucose-6-phosphate dehydrogenase level in blood (HP:0410179)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Poor head control (HP:0002421)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Hypertonia (HP:0001276)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Gait disturbance (HP:0001288)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Lethargy (HP:0001254)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Seizure (HP:0001250)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Seizure (HP:0001250)
Associated disease: FG SYNDROME 4 (OMIM:300422)
Gene: CASK
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FG SYNDROME 4 (OMIM:300422)
Gene: CASK
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
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: CASK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FG SYNDROME 4 (OMIM:300422)
Gene: CASK
Phenotype: Spasticity (HP:0001257)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Spasticity (HP:0001257)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
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: CASK
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)