Phenotypes for disease #06987 (CPHD (hormone deficiency, pituitary, combined))

26 entries on 1 page. Showing entries 1 - 26.
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0000319107 growth retardation - see paper; ..., severe growth retardation, complete deficit in all but one (ACTH) anterior pituitary hormone, elevated/anteverted shoulders, stubby neck, severe restriction of rotation cervical spine; II1 moderate (60 dB), II4 mild (30 dB) sensorineural hearing loss Familial, autosomal recessive - - - - Johan den Dunnen 00428195
0000319108 growth retardation - see paper; ..., 1d-micropenis, cryptorchidism; severe growth retardation, complete deficit in all but one (ACTH) anterior pituitary hormone, elevated/anteverted shoulders, stubby neck, severe restriction of rotation cervical spine; extreme mental retardation; deaf, no acoustic evoked potential Familial, autosomal recessive - - - - Johan den Dunnen 00428196
0000319109 combined pituitary hormonal deficiency CPHD3 see paper; ..., cyanosis, feeding difficulty, persistent jaundice, micropenis, poor weight gain, poor growth rate Familial, autosomal recessive 06y09m - - - Johan den Dunnen 00428197
0000319110 combined pituitary hormonal deficiency CPHD3 see paper; ..., birth weight 3000g, hypoglycemia, muscular hypotonia, frontal bossing, depressed nasal bridge, neck rigidity, MRI brain pituitary enlarged Familial, autosomal recessive - - - - Johan den Dunnen 00428198
0000319111 combined pituitary hormonal deficiency CPHD3 see paper; ..., frontal bossing, depressed nasal bridge, neck rigidity, MRI brain pituitary enlarged Familial, autosomal recessive - - - - Johan den Dunnen 00428199
0000319112 combined pituitary hormonal deficiency CPHD3 see paper; ..., birth weight 3400g, hypoglycemia, muscular hypotonia, frontal bossing, depressed nasal bridge, neck rigidity, MRI brain pituitary hypoplastic Familial, autosomal recessive - - - - Johan den Dunnen 00428200
0000319113 combined pituitary hormonal deficiency CPHD3 see paper; ..., birth weight 3250g, hypoglycemia, muscular hypotonia, frontal bossing, depressed nasal bridge, neck rigidity, MRI brain pituitary hypoplastic Familial, autosomal recessive - - - - Johan den Dunnen 00428201
0000319114 growth failure CPHD3 see paper; ..., birth weight 4000g; 9y-secondary hypothyroidism; no hypoglycemia, no muscular hypotonia, no frontal bossing, no depressed nasal bridge, no neck rigidity, MRI brain pituitary normal Familial, autosomal recessive - 09y - - Johan den Dunnen 00428202
0000319115 growth failure CPHD3 see paper; ..., birth weight 3500g; 8y-secondary hypothyroidism; no hypoglycemia, no muscular hypotonia, no frontal bossing, no depressed nasal bridge, no neck rigidity, MRI brain pituitary normal Familial, autosomal recessive - 08y - - Johan den Dunnen 00428203
0000319116 growth failure CPHD3 see paper; ..., no hypoglycemia, no muscular hypotonia, no frontal bossing, no depressed nasal bridge, no neck rigidity, Familial, autosomal recessive - - - - Johan den Dunnen 00428204
0000319117 combined pituitary hormone deficiency CPHD3 see paper; ..., panhypopituitarism, severe anterior pituitary hypoplasia, skeletal abnormalities, hyperextensible joints, loose skin, sensorineural hearing loss Familial, autosomal recessive - - - - Johan den Dunnen 00428205
0000319118 combined pituitary hormone deficiency CPHD3 see paper; ..., panhypopituitarism, severe anterior pituitary hypoplasia, skeletal abnormalities, hyperextensible joints, loose skin, sensorineural hearing loss Familial, autosomal recessive - - - - Johan den Dunnen 00428206
0000319119 combined pituitary hormone deficiency CPHD3 see paper; ..., panhypopituitarism, severe anterior pituitary hypoplasia, skeletal abnormalities, hyperextensible joints, loose skin, sensorineural hearing loss Familial, autosomal recessive - - - - Johan den Dunnen 00428207
0000319120 combined pituitary hormone deficiency CPHD3 see paper; ..., combined pituitary hormone deficiency, pituitary/skeletal abnormalities, sensorineural deafness Familial, autosomal recessive - - - - Johan den Dunnen 00428208
0000319121 combined pituitary hormone deficiency CPHD3 see paper; ..., birth 34w, vaginal induction due to Rh-immunization, weight 2460g, length 46cm; no congenital hip subluxation; myopia; 9y-scoliosis; 18y-scoliosis surgery; iritis recidiv (Posner-Schlossman syndrome), ersistent ductus arteriosus( 9y-surgery); deficient in GH, prolactin, TSH, FSH, and LH Familial, autosomal recessive - - - - Johan den Dunnen 00428209
0000319122 combined pituitary hormone deficiency CPHD3 see paper; ..., birth 41w+2, vaginal induction, weight 3250g, length 47cm; congenital hip subluxation; myopia; 7y-scoliosis; 11y-scoliosis surgery; persistent ductus arteriosus, pulmonary stenosis (spontaneous recovered); deficient in GH, prolactin, TSH, FSH, and LH Familial, autosomal recessive - - - - Johan den Dunnen 00428210
0000319123 combined pituitary hormone deficiency CPHD3 see paper; ..., birth 41w+1, partus normalis, weight 3410g, length 47cm; no congenital hip subluxation; no myopia; 5y-scoliosis; deficient in GH, prolactin, TSH, FSH, and LH Familial, autosomal recessive - - - - Johan den Dunnen 00428211
0000319124 combined pituitary hormone deficiency CPHD3 see paper; ..., birth 42w, weight 3660g, length 49cm; congenital hip subluxation; myopia; 7y-scoliosis; 12y-scoliosis surgery; asthma bronchiale; deficient in GH, prolactin, TSH, FSH, and LH Familial, autosomal recessive - - - - Johan den Dunnen 00428212
0000319125 combined pituitary hormone deficiency CPHD3 see paper; ..., birth 42w+6, vaginal induction, weight 3680g, length 51cm; no congenital hip subluxation; no myopia; 6y-scoliosis; deficient in GH, prolactin, TSH, FSH, and LH Familial, autosomal recessive - - - - Johan den Dunnen 00428213
0000319126 combined pituitary hormone deficiency CPHD3 see paper; ..., birth 37w+6, sectio due to bradycardia, weight 3044g, length 45cm; no congenital hip subluxation; deficient in GH, prolactin, TSH, FSH, and LH Familial, autosomal recessive - - - - Johan den Dunnen 00428214
0000319127 hypoglycemia CPHD3 see paper; ..., birth 39w, weight 3,930g, length 50cm respectively, short neck with limited rotation; 4d-respiratory failure, mechanical ventilation; <1w-recurrent hypoglycemia, normal ACTH, normal cortisol, growth hormone undetectable, IGF-1/IGF-BP3 below the detection; sensorineural hearing loss Familial, autosomal recessive 01y06m - - - Johan den Dunnen 00428215
0000319128 short stature CPHD4 see paper; ..., short stature Familial, autosomal dominant - - - - Johan den Dunnen 00428216
0000319129 short stature CPHD4 see paper; ..., short stature Unknown - - - - Johan den Dunnen 00428217
0000319130 short stature CPHD4 see paper; ..., short stature Unknown - - - - Johan den Dunnen 00428218
0000321952 combined pituitary hormone deficiency CPHD4 combined pituitary hormone deficiency Familial, autosomal dominant - - - - Johan den Dunnen 00431355
0000337815 combined pituitary hormone deficiency CPHD1 see paper; ... Familial, autosomal recessive - - - - Mohamed A. Elmonem 00358925
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