TaoMedAI/RareMedData huggingface dataset:
Gene: AHDC1
Phenotype: Ataxia (HP:0001251)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Ataxia (HP:0001251)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Impaired toileting ability (HP:0031061)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Micropenis (HP:0000054)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Delayed ability to stand (HP:0025335)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Absent speech (HP:0001344)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Myoclonus (HP:0001336)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Cleft palate (HP:0000175)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Wide mouth (HP:0000154)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Recurrent patellar dislocation (HP:0005001)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Constipation (HP:0002019)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Short columella (HP:0002000)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Dysphagia (HP:0002015)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Babinski sign (HP:0003487)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Congenital onset (HP:0003577)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Impulsivity (HP:0100710)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Abnormal curvature of the vertebral column (HP:0010674)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Developmental regression (HP:0002376)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Focal emotional seizure with laughing (HP:0010821)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Small hand (HP:0200055)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Tube feeding (HP:0033454)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Temporal cortical atrophy (HP:0007112)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Low hanging columella (HP:0009765)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Abnormality of the cochlear nerve (HP:0011396)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Nystagmus (HP:0000639)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Amblyopia (HP:0000646)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Narrow nail (HP:0011313)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Bicoronal synostosis (HP:0011318)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Synophrys (HP:0000664)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Positional foot deformity (HP:0005656)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Short stature (HP:0004322)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Retrocerebellar cyst (HP:0006951)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Retrocerebellar cyst (HP:0006951)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Frontal cortical atrophy (HP:0006913)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Anxiety (HP:0000739)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Autism (HP:0000717)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Autism (HP:0000717)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Upbeat nystagmus (HP:0011477)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Childhood onset (HP:0011463)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Shield chest (HP:0000914)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Soft skin (HP:0000977)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Subcortical U fiber lesion (HP:6000995)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Epicanthus (HP:0000286)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Mild myopia (HP:0025573)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Broad philtrum (HP:0000289)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Abnormality of the head (HP:0000234)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: High palate (HP:0000218)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Trismus (HP:0000211)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Omphalocele (HP:0001539)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Small earlobe (HP:0000385)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Small earlobe (HP:0000385)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Cupped ear (HP:0000378)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Low-set ears (HP:0000369)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Long philtrum (HP:0000343)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Broad forehead (HP:0000337)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: High forehead (HP:0000348)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Micrognathia (HP:0000347)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Short chin (HP:0000331)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Short philtrum (HP:0000322)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Submucous cleft palate (HP:5201016)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Astigmatism (HP:0000483)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Strabismus (HP:0000486)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Strabismus (HP:0000486)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Short neck (HP:0000470)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Short foot (HP:0001773)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Pes planus (HP:0001763)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Hypoxemia (HP:0012418)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Protruding ear (HP:0000411)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)