48,XXYY syndrome
|
(Orphanet:10)
|
Adenylosuccinate lyase deficiency
|
(Orphanet:46)
|
Alpha-mannosidosis
|
(Orphanet:61)
|
Angelman syndrome
|
(Orphanet:72)
|
Cleft lip/palate - intestinal malrotation - cardiopathy
|
(Orphanet:2001)
|
DPM1-CDG
|
(Orphanet:79322)
|
Distal monosomy 3p
|
(Orphanet:1620)
|
Familial lambdoid synostosis
|
(Orphanet:3267)
|
Frank-Ter Haar syndrome
|
(Orphanet:137834)
|
Galloway-Mowat syndrome
|
(Orphanet:2065)
|
HOLOPROSENCEPHALY 7
|
(OMIM:610828)
|
Hereditary hypophosphatemic rickets with hypercalciuria
|
(Orphanet:157215)
|
Hypocalcemic vitamin D-dependent rickets
|
(Orphanet:289157)
|
Hypocalcemic vitamin D-resistant rickets
|
(Orphanet:93160)
|
Jacobsen syndrome
|
(Orphanet:2308)
|
Lethal hemolytic anemia - genital anomalies
|
(Orphanet:1046)
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35
|
(OMIM:615162)
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44
|
(OMIM:615942)
|
Microcephaly - lymphedema - chorioretinopathy
|
(Orphanet:2526)
|
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
|
(Orphanet:1194)
|
Mullerian derivatives - lymphangiectasia - polydactyly
|
(Orphanet:1655)
|
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
|
(OMIM:614887)
|
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
|
(OMIM:214100)
|
SCHIZOPHRENIA 1
|
(OMIM:181510)
|
SHORT RIB-POLYDACTYLY SYNDROME, TYPE III
|
(OMIM:263510)
|
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
|
(OMIM:264700)
|
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
|
(OMIM:600081)
|
VITAMIN D-DEPENDENT RICKETS, TYPE 2A
|
(OMIM:277440)
|
Wilson-Turner syndrome
|
(Orphanet:3459)
|
Zellweger syndrome
|
(Orphanet:912)
|