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Ontology Browser
Term:
Central nervous system calcification - deafness - tubular acidosis - anemia (EFO:Orphanet:3240)
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Parent Terms Term With Siblings Child Terms
15q24 microdeletion syndrome 
19p13.13 microdeletion syndrome 
3C syndrome 
5p13 microduplication syndrome 
8q21.11 microdeletion syndrome 
Acro-cardio-facial syndrome 
Acrofacial dysostosis, Rodríguez type 
ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder 
Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis 
Agnathia - holoprosencephaly - situs inversus 
Aicardi-Goutières syndrome 
Alacrimia-choreoathetosis-liver dysfunction syndrome 
Albinism-deafness syndrome 
Albright hereditary osteodystrophy 
Alopecia - epilepsy - pyorrhea - intellectual disability 
Alopecia-contractures-dwarfism-intellectual disability syndrome 
Alopecia-intellectual disability syndrome 
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16 
Aniridia - cerebellar ataxia - intellectual disability 
Aniridia - ptosis - intellectual disability - familial obesity 
Aniridia - renal agenesis - psychomotor retardation 
Aniridia-intellectual disability syndrome 
Aortic arch anomaly - peculiar facies - intellectual disability 
Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability 
Arachnodactyly - abnormal ossification - intellectual disability 
Arthrogryposis-like hand anomaly - sensorineural deafness 
Ataxia-deafness-intellectual disability syndrome 
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome 
Athabaskan brainstem dysgenesis syndrome 
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy 
Autosomal dominant deafness-onychodystrophy syndrome 
Autosomal dominant primary hypomagnesemia with hypocalciuria 
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome +  
Autosomal recessive spastic paraplegia type 11 
Bilateral microtia - deafness - cleft palate 
Blepharophimosis-intellectual disability syndrome +  
BOR syndrome 
Brachydactyly - mesomelia - intellectual disability - heart defects 
Brain malformation - congenital heart disease - postaxial polydactyly 
Branchio-otic syndrome 
Branchio-skeleto-genital syndrome 
Cardiac anomalies-developmental delay-facial dysmorphism syndrome 
Cataract - ataxia - deafness 
Cataract - deafness - hypogonadism 
Cataract - hypertrichosis - intellectual disability 
Cataract - intellectual disability - anal atresia - urinary defects 
Cataract - intellectual disability - hypogonadism 
Cataract - nephropathy - encephalopathy 
Caudal appendage - deafness 
Central nervous system calcification - deafness - tubular acidosis - anemia 
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss 
Cerebro-oculo-nasal syndrome 
Charcot-Marie-Tooth disease - deafness - intellectual disability 
Choanal atresia-deafness-cardiac defects-dysmorphism syndrome 
Choroideremia - deafness - obesity 
Cleft lip/palate - deafness - sacral lipoma 
Cleft palate - short stature - vertebral anomalies 
Cochleosaccular degeneration - cataract 
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay 
Congenital cataracts - facial dysmorphism - neuropathy 
Congenital disorder of glycosylation with deafness as a major feature 
Connective tissue disorder due to lysyl hydroxylase-3 deficiency 
Contractures - ectodermal dysplasia - cleft lip/palate 
Corneal dystrophy - perceptive deafness 
Cortical blindness - intellectual disability - polydactyly 
Craniodigital syndrome - intellectual disability 
Cryptorchidism - arachnodactyly - intellectual disability 
Deafness - small bowel diverticulosis - neuropathy 
Deafness - ear malformation - facial palsy 
Deafness - epiphyseal dysplasia - short stature 
Deafness - genital anomalies - metacarpal and metatarsal synostosis 
Deafness - hypogonadism 
Deafness - intellectual disability, Martin-Probst type 
Deafness - lymphedema - leukemia 
Deafness - oligodontia 
Deafness - vitiligo - achalasia 
Delayed speech - facial asymmetry - strabismus - ear lobe creases 
Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability 
Developmental delay - deafness, Hildebrand type 
Developmental malformations - deafness - dystonia 
Disorder of sex development - intellectual disability 
Distal renal tubular acidosis with anemia 
Dwarfism - intellectual disability - eye abnormality 
Dysmorphism - conductive hearing loss - heart defect 
Dysmorphism - short stature - deafness - disorder of sex development 
Ear-patella-short stature syndrome 
Ectodermal dysplasia - sensorineural deafness 
Epilepsy - microcephaly - skeletal dysplasia 
Epilepsy telangiectasia 
Epiphyseal dysplasia - hearing loss - dysmorphism 
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation 
Facial dysmorphism - shawl scrotum - joint laxity 
Fallot complex - intellectual disability - growth delay 
Fanconi renotubular syndrome +  
Generalized pseudohypoaldosteronism type 1 
Gingival fibromatosis - progressive deafness 
Global developmental delay - osteopenia - ectodermal defect 
Gómez-López-Hernández syndrome 
Hair defect - photosensitivity - intellectual disability 
Hearing loss - familial salivary gland insensitivity to aldosterone 
Heart defect - round face - congenital developmental delay 
Hepatic fibrosis - renal cysts - intellectual disability 
Hirschsprung disease - deafness - polydactyly 
Holoprosencephaly - postaxial polydactyly 
Holoprosencephaly - radial heart renal anomalies 
Hypertelorism-microtia-facial clefting syndrome 
Hyperuricemia - anemia - renal failure 
Hypomyelination - congenital cataract 
Hypoparathyroidism - deafness - renal disease 
Hypospadias - intellectual disability, Goldblatt type 
Hypotonia - cystinuria type 1 +  
Ichthyosis - alopecia - eclabion - ectropion - intellectual disability 
Idiopathic hypercalciuria 
Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease 
inherited renal tubular disease +  
Intellectual disability - alacrima - achalasia 
Intellectual disability - balding - patella luxation - acromicria 
Intellectual disability - cataracts - calcified pinnae - myopathy 
Intellectual disability - cataracts - kyphosis 
Intellectual disability - craniofacial dysmorphism - cryptorchidism 
Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus 
Intellectual disability - hypoplastic corpus callosum - preauricular tag 
Intellectual disability - hypotonia - skin hyperpigmentation 
Intellectual disability - hypotonia - spasticity - sleep disorder 
Intellectual disability - microcephaly - phalangeal - facial abnormalities 
Intellectual disability - myopathy - short stature - endocrine defect 
Intellectual disability - obesity - brain malformations - facial dysmorphism 
Intellectual disability - polydactyly - uncombable hair 
Intellectual disability - short stature - hypertelorism 
intellectual disability - sparse hair - brachydactyly 
Intellectual disability - spasticity - ectrodactyly 
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome 
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome 
Isolated anencephaly/exencephaly 
Joubert syndrome with orofaciodigital defect 
Kaler-Garrity-Stern syndrome 
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome 
Lethal ataxia with deafness and optic atrophy 
Lipodystrophy - intellectual disability - deafness 
Macrocephaly - spastic paraplegia - dysmorphism 
Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies 
Marfanoid habitus - intellectual disability, autosomal recessive 
Maxillonasal dysplasia 
MEGDEL syndrome 
MELAS 
Metaphyseal dysostosis - intellectual disability - conductive deafness 
Micro syndrome 
Microbrachycephaly - ptosis - cleft lip 
Microcephalic primordial dwarfism, Dauber type 
Microcephaly - brachydactyly - kyphoscoliosis 
Microcephaly - cardiomyopathy 
Microcephaly - cervical spine fusion anomalies 
Microcephaly - cleft palate 
Microcephaly - deafness - intellectual disability 
Microcephaly - glomerulonephritis - marfanoid habitus 
Microcephaly - polymicrogyria - corpus callosum agenesis 
Microcephaly - seizures - intellectual disability - heart disease 
Microlissencephaly - micromelia 
Microphthalmia - brain atrophy 
Mitochondrial myopathy - lactic acidosis - deafness 
Mohr-Tranebjaerg syndrome 
Myoclonus - cerebellar ataxia - deafness 
Myopathy - growth delay - intellectual disability - hypospadias 
Nephrogenic diabetes insipidus - intracranial calcification 
Nephropathy-deafness-hyperparathyroidism syndrome 
Nephrosis - deafness - urinary tract - digital malformations 
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome 
Neurologic Waardenburg-Shah syndrome 
Neutropenia - monocytopenia - deafness 
Olivopontocerebellar atrophy - deafness 
Ophthalmoplegia - intellectual disability - lingua scrotalis 
Optic atrophy-intellectual disability syndrome 
Orofaciodigital syndrome type 1 
Orofaciodigital syndrome type 10 
Orofaciodigital syndrome type 2 
Orofaciodigital syndrome type 3 
Orofaciodigital syndrome type 4 
Orofaciodigital syndrome type 5 
Orofaciodigital syndrome type 8 
Ossification anomalies - psychomotor development delay 
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa 
Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism 
Osteopetrosis with renal tubular acidosis 
Osteoporosis - pseudoglioma 
Pachygyria - intellectual disability - epilepsy 
Phocomelia - ectrodactyly - deafness - sinus arrhythmia 
Polymicrogyria - turricephaly - hypogenitalism 
Polymicrogyria due to TUBB2B mutation 
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract 
Polyneuropathy - intellectual disability - acromicria - premature menopause 
Preaxial polydactyly - colobomata - intellectual disability 
Primary hypomagnesemia with secondary hypocalcemia 
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy 
Prominent glabella - microcephaly - hypogenitalism 
Proximal 16p11.2 microduplication syndrome 
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 
Pterygium colli - intellectual disability - digital anomalies 
Ptosis - syndactyly - learning difficulties 
Qazi-Markouizos syndrome 
Radio-ulnar synostosis - intellectual disability - hypotonia 
Recessive intellectual disability - motor dysfunction - multiple joint contractures 
Renal pseudohypoaldosteronism type 1 
renal tubular acidosis +  
Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism 
Sanjad-Sakati syndrome 
Sensorineural hearing loss - early graying - essential tremor 
Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency 
Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia 
Severe intellectual disability and progressive spastic paraplegia 
Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome 
Short stature - deafness - neutrophil dysfunction - dysmorphism 
Short stature - intellectual disability - eye anomalies - cleft lip/palate 
Short stature - webbed neck - heart disease 
Short ulna - dysmorphism - hypotonia - intellectual disability 
Shoulder and girdle defects - familial intellectual disability 
Skeletal dysplasia - epilepsy - short stature 
Spastic paraparesis - deafness 
Spastic paraplegia - epilepsy - intellectual disability 
Spastic paraplegia - glaucoma - intellectual disability 
Spastic paraplegia - nephritis - deafness 
Spastic tetraplegia - retinitis pigmentosa - intellectual disability 
Split hand - split foot - deafness 
Split hand - urinary anomalies - spina bifida 
Spondylocostal dysostosis - anal and genitourinary malformations 
Spondylocostal dysostosis - hypospadias - intellectual disability 
Spondyloepiphyseal dysplasia, Nishimura type 
Stickler syndrome type 3 
Syndromic neurometabolic disease with non-X-linked intellectual disability +  
Thickened earlobes - conductive deafness 
Upper limb defect - eye and ear abnormalities 
Uveal coloboma - cleft lip and palate - intellectual disability 
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay 
White matter hypoplasia - corpus callosum agenesis - intellectual disability 
X-linked Charcot-Marie-Tooth disease +  
X-linked hypophosphatemia 
Xeroderma pigmentosum complementation group B 
Xeroderma pigmentosum complementation group D 
Xeroderma pigmentosum complementation group F 
Xeroderma pigmentosum complementation group G 

Synonyms
Exact Synonyms: Yoshimura-Takeshita syndrome

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