|
212540
CATARACT, MICROCEPHALY, FAILURE TO THRIVE,
KYPHOSCOLIOSIS SYNDROME
601701 ARTHROGRYPOSIS AND ECTODERMAL
DYSPLASIA
*601680
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL,
TYPE 2B; AMCD2B
*208150
PENA-SHOKEIR SYNDROME, TYPE I
208085 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND
CHOLESTASIS
*114300
CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT
208155 ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH
WHISTLING FACE
157910 MOEBIUS SYNDROME WITH CLUBFOOT,
ARTHROGRYPOSIS, AND DIGITAL ANOMALIES
*265000
PTERYGIUM SYNDROME
*193700
WHISTLING FACE-WINDMILL VANE HAND SYNDROME
*208100
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC
TYPE; AMCN
*157900
MOEBIUS SYNDROME; MBS
214150 CEREBROOCULOFACIOSKELETAL SYNDROME
*108120
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL,
TYPE 1; AMCD1
208081 ARTHROGRYPOSIS, DISTAL, WITH MENTAL
RETARDATION AND CHARACTERISTIC FACIES
*224690
EAR, PATELLA, SHORT STATURE SYNDROME
*248700
MARDEN-WALKER SYNDROME; MWS
*275210
TIGHT SKIN CONTRACTURE SYNDROME, LETHAL
*121050
CONTRACTURAL ARACHNODACTYLY, CONGENITAL;
CCA
*208200
ARTHROGRYPOSIS-LIKE DISORDER
*259450
BRUCK SYNDROME
*254210
MYASTHENIA GRAVIS, FAMILIAL INFANTILE;
FIMG
#226730
EPIDERMOLYSIS BULLOSA LETALIS WITH PYLORIC
ATRESIA
602484 PELVIC HYPOPLASIA WITH LOWER-LIMB
ARTHROGRYPOSIS
*201550
ADDUCTED THUMBS SYNDROME
*253900
MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING
ARTHROGRYPOSIS
108200 ARTHROGRYPOSIS-LIKE HAND ANOMALY AND
SENSORINEURAL DEAFNESS
*253310
LETHAL CONGENITAL CONTRACTURE SYNDROME
#161200
NAIL-PATELLA SYNDROME; NPS
*150250
LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1
#145600
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1;
MHS1
301815 ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA,
CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY
601160 LISSENCEPHALY SYNDROME TYPE III
231080 GERMAN SYNDROME
601776 ADDUCTED THUMB-CLUBFOOT SYNDROME
208158 ARTHROGRYPOSIS WITH HYPERKERATOSIS
208080 ARTHROGRYPOSIS, DISTAL, WITH
HYPOPITUITARISM, MENTAL RETARDATION, AND FACIAL
ANOMALIES
#130060
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL
DOMINANT
211965 CAMPTODACTYLY-ICHTHYOSIS SYNDROME
*162370
NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS
MULTIPLEX
178110 PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL
DOMINANT TYPE
108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA;
AMC
601809 SPONDYLOSPINAL THORACIC DYSOSTOSIS
*253800
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY;
FCMD
217150 CONTRACTURES, CONGENITAL, TORTICOLLIS,
AND MALIGNANT HYPERTHERMIA
*250250
CARTILAGE-HAIR HYPOPLASIA; CHH
*222600
DIASTROPHIC DYSPLASIA; DTD
121070 CONTRACTURES OF FINGERS AND JAW
601164 EXTRAPYRAMIDAL DISORDER, PROGRESSIVE,
WITH PRIMARY HYPOGONADISM AND ALOPECIA
*126050
DIGITOTALAR DYSMORPHISM
210550 BILIARY MALFORMATION WITH RENAL TUBULAR
INSUFFICIENCY
|