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achalasia microcephaly syndrome
acromesomelic dysplasia 2B
acrorenal syndrome, autosomal recessive
Aicardi-Goutieres syndrome +
auditory neuropathy-optic atrophy syndrome
autosomal dominant optic atrophy plus syndrome +
autosomal recessive Alport syndrome
autosomal recessive amelia
autosomal recessive brachyolmia +
autosomal recessive cerebellar ataxia +
autosomal recessive cerebral atrophy
autosomal recessive complex spastic paraplegia
autosomal recessive cutis laxa type 1 +
autosomal recessive cutis laxa type 2 +
autosomal recessive distal renal tubular acidosis +
autosomal recessive Ehlers-Danlos syndrome, vascular type
autosomal recessive Emery-Dreifuss muscular dystrophy
autosomal recessive epidermolytic ichthyosis
autosomal recessive faciodigitogenital syndrome
autosomal recessive familial Mediterranean fever
autosomal recessive hereditary demyelinating motor and sensory neuropathy
autosomal recessive humeroradial synostosis
autosomal recessive hypohidrotic ectodermal dysplasia
autosomal recessive hypophosphatemic rickets +
autosomal recessive inherited pseudoxanthoma elasticum
autosomal recessive intermediate Charcot-Marie-Tooth disease +
autosomal recessive Kenny-Caffey syndrome
autosomal recessive limb-girdle muscular dystrophy +
autosomal recessive multiple pterygium syndrome +
autosomal recessive non-syndromic intellectual disability +
autosomal recessive ocular albinism +
autosomal recessive omodysplasia
autosomal recessive optic atrophy
autosomal recessive osteopetrosis +
autosomal recessive palmoplantar keratoderma and congenital alopecia
autosomal recessive polycystic kidney disease
autosomal recessive primary microcephaly +
autosomal recessive progressive external ophthalmoplegia +
autosomal recessive proximal renal tubular acidosis
autosomal recessive Robinow syndrome
autosomal recessive severe congenital neutropenia +
autosomal recessive sideroblastic anemia +
autosomal recessive spastic ataxia +
autosomal recessive spastic paraplegia type 78
autosomal recessive spondylocostal dysostosis
autosomal recessive titinopathy +
beta-ketothiolase deficiency
bifid nose, autosomal recessive
Bjornstad syndrome Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome.
brain abnormalities, neurodegeneration, and dysosteosclerosis
branched-chain keto acid dehydrogenase kinase deficiency
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
cardiomyopathy-hypotonia-lactic acidosis syndrome
cartilage-hair hypoplasia +
cleft lip/palate-ectodermal dysplasia syndrome +
congenital non-bullous ichthyosiform erythroderma
congenital prothrombin deficiency
congenital vertebral-cardiac-renal anomalies syndrome +
craniometaphyseal dysplasia, autosomal recessive
craniosynostosis syndrome, autosomal recessive +
cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
dacryocystitis-osteopoikilosis syndrome
dyskeratosis congenita, autosomal recessive 5
Ehlers-Danlos syndrome, classic-like, 2
Ehlers-Danlos syndrome, kyphoscoliotic type 1
Ellis-van Creveld syndrome
eosinophil peroxidase deficiency
ethylmalonic encephalopathy
familial adenomatous polyposis 2
Galloway-Mowat syndrome +
gastrointestinal ulceration, recurrent, with dysfunctional platelets
global developmental delay, progressive ataxia, and elevated glutamine
glycosylphosphatidylinositol biosynthesis defect 15
glycosylphosphatidylinositol biosynthesis defect 21
gnb5-related intellectual disability-cardiac arrhythmia syndrome
growth hormone insensitivity with immune dysregulation 1, autosomal recessive
GUCY2D-related recessive retinopathy +
hair defect with photosensitivity and intellectual disability syndrome
hearing loss, autosomal recessive +
heart defects-limb shortening syndrome
hereditary myopathy with lactic acidosis due to ISCU deficiency
homocystinuria without methylmalonic aciduria +
Hutchinson-Gilford progeria syndrome
hyper-IgM syndrome type 2
hypercalcemia, infantile +
hypermanganesemia with dystonia 2
hyperphenylalaninemia due to DNAJC12 deficiency
hyperphenylalaninemia due to tetrahydrobiopterin deficiency +
hypertelorism, microtia, facial clefting syndrome
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
hypoparathyroidism-retardation-dysmorphism syndrome
ichthyosis linearis circumflexa
Imerslund-Grasbeck syndrome type 2
immunodeficiency-centromeric instability-facial anomalies syndrome
inborn mitochondrial metabolism disorder +
inflammatory bowel disease, immunodeficiency, and encephalopathy
intellectual developmental disorder with short stature and behavioral abnormalities
intellectual developmental disorder, autosomal recessive 72
isolated hyperchlorhidrosis
Johanson-Blizzard syndrome
joint laxity, short stature, and myopia
leukocyte adhesion deficiency +
leukoencephalopathy with calcifications and cysts
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
leukoencephalopathy-palmoplantar keratoderma syndrome
Lopes-Maciel-Rodan syndrome
maternally-inherited cardiomyopathy and hearing loss
metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
microcephaly, growth restriction, and increased sister chromatid exchange 2
microphthalmia with limb anomalies
mitochondrial pyruvate carrier deficiency
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
multiple intestinal atresia
myopathy, congenital, progressive, with scoliosis
myotonia congenita, autosomal recessive
NAD(P)HX dehydratase deficiency
nephropathic cystinosis +
Nestor-Guillermo progeria syndrome
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
neurodegeneration, childhood-onset, with cerebellar atrophy
neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
neurodevelopmental disorder with cerebellar hypoplasia and spasticity
neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
neuronopathy, distal hereditary motor, autosomal recessive +
Niemann-Pick disease type A
Niemann-Pick disease type B
Niemann-Pick disease type C +
Nijmegen breakage syndrome
oculodentodigital dysplasia, autosomal recessive
odonto-onycho-dermal dysplasia
optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
osteoporosis-pseudoglioma syndrome
palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
permanent neonatal diabetes mellitus 1
peroxisome biogenesis disorder +
persistent hyperplastic primary vitreous, autosomal recessive
polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
proteosome-associated autoinflammatory syndrome +
pseudohypoaldosteronism, type IB2, autosomal recessive
pure mitochondrial myopathy
Rajab interstitial lung disease with brain calcifications 1
retinal dystrophy with leukodystrophy
Roberts-SC phocomelia syndrome
RPE65-related recessive retinopathy +
SchC6pf-Schulz-Passarge syndrome
Schwartz-Jampel syndrome +
SCN4A-related myopathy, autosomal recessive +
severe combined immunodeficiency due to CARMIL2 deficiency
short stature and microcephaly with genital anomalies
Shwachman-Diamond syndrome
skin fragility-woolly hair-palmoplantar keratoderma syndrome
spastic tetraplegia and axial hypotonia, progressive
spondyloepiphyseal dysplasia tarda, autosomal recessive
temtamy preaxial brachydactyly syndrome
TH-deficient dopa-responsive dystonia
thiamine-responsive megaloblastic anemia syndrome
Wolcott-Rallison syndrome
X-linked sideroblastic anemia with ataxia
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