Rare Disease Library

46,XY difference of sex development of gynecological interest

46,XY DSD of gynecological interest · 46,XY disorder of sex development of gynecological interest

46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency · XY sex reversal-adrenal failure

46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

46,XY disorder of gonadal development

46,XY ovotesticular difference of sex development

46,XY ovotesticular DSD · 46,XY ovotesticular disorder of sex development

Acute myeloid leukemia with NPM1 somatic mutations

Acute myeloid leukemia · AML

Anterior cutaneous nerve entrapment syndrome

ACNES · Intercostal nerve syndrome

Anterior segment developmental anomaly

Anterior segment dysgenesis

Anterior segment developmental anomaly of genetic origin

Anterior segment developmental anomaly with extraocular manifestations

Anterior segment developmental anomaly without extraocular manifestations

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome

Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language · MEF2C-related syndrome

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation

CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome

CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome

CDK13-related disorder

CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome

Snijders Blok-Campeau syndrome

CHD4-related neurodevelopmental disorder

Sifrim-Hitz-Weiss syndrome · CHD4-related neurodevelopmental syndrome

Chondrodysplasia-difference of sex development syndrome

Nivelon-Nivelon-Mabille syndrome · Chondrodysplasia-disorder of sex development syndrome

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome

NEDMABA disorder · Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies

Congenital cataract-hearing loss-severe developmental delay syndrome

Congenital cataract-deafness-severe developmental delay syndrome · Lethal neurodegenerative disorder due to copper transport defect

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

Congenital disorder of glycosylation with developmental anomaly

CDG with developmental anomaly

Congenital enteropathy involving intestinal mucosa development

Congenital heart defect-round face-developmental delay syndrome

Sonoda syndrome

Congenital hypothyroidism due to developmental anomaly

Primary congenital hypothyroidism due to developmental anomaly

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

CLIFAHDD syndrome

Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome

FOSL2-related neurodevelopmental disorder

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

SIFD syndrome

Contractures-developmental delay-Pierre Robin syndrome

5q23 microdeletion syndrome

Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome

ERF-related syndromic craniosynostosis

CTCF-related neurodevelopmental disorder

Developmental and epileptic encephalopathy with spike-wave activation in sleep

CSWS · CSWSS syndrome

Developmental and speech delay due to SOX5 deficiency

Developmental anomaly of metabolic origin

Developmental defect of the eye

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Developmental delay due to ALDH6A1 deficiency · Developmental delay due to MMSDH deficiency

Developmental delay with autism spectrum disorder and gait instability

Developmental delay with ASD and gait instability

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

Del(2)(q24) · Monosomy 2q24

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation

NR4A2-related neurodevelopmental syndrome

Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia syndrome

Difference of sex development

DSD · Disorder of sex development