stature ; Sinus tachycardia ; Sparse and thin eyebrow ; Sparse eyelashes ; Spotty hyperpigmentation ; Wide cranial sutures Associated Genes BANF1 (Withdrawn symbols: BAF ) Mouse Orthologs Banf1 (Withdrawn symbols: C78287 ) Source OMIM:614008 (names, [mousephenotype.org]

Prevalence of clinical parameters (%) List of symptoms Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Short stature skeletal 100 % 21932319 2013-08-06 Facial dysmorphism skeletal 100 % 21932319 2013-08-06 Delayed closure of [brain-aging.com]

[…] syndromes ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME ( RBM28 ) PANCREATIC AND CEREBELLAR AGENESIS (PTF1A) LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES Partial lipodystrophy – cataract [european-lipodystrophies.org]

stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. [scinapse.io]

Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion [rarediseases.info.nih.gov]

Premaxillary and maxillary retraction with pseudo-prognathism and palpebral malocclusion are characteristic. Thumbs and halluces are broad and spatulated. [scinapse.io]

Premaxillary and maxillary retraction with pseudo-prognathism and palpebral malocclusion are characteristic. Thumbs and halluces are broad and spatulated. [scinapse.io]

Laminopathy type Decaudain-Vigouroux Left ventricular noncompaction Lethal restrictive dermopathy Mandibuloacral dysplasia with type A lipodystrophy Osteodysplasty, Melnick-Needles type Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 Pachyonychia [csbg.cnb.csic.es]

[…] hidrotic Ectodermal dysplasia/skin fragility syndrome Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) [PATH:hsa04514] Odontoonychodermal dysplasia Ectodermal dysplasia-syndactyly syndrome (EDSS) Acne inversa Anonychia congenita Pachyonychia [csirnotes.com]

Pachyonychia congenita, Jackson-Lawler type, 167210 (3) KRT17 G:148069. [usegalaxy.org]

Definition An atypical progeroid syndrome characterized by normal development in the first years of life, later followed by the emergence of generalized lipoatrophy, severe osteoporosis, and marked osteolysis. [uniprot.org]

osteoporosis, and marked osteolysis. [genecards.org]

contracture ; Hypertension ; Joint stiffness ; Lipoatrophy ; Malar flattening ; Micrognathia ; Midface retrusion ; Osteolytic defects of the distal phalanges of the hand ; Osteoporosis ; Progressive clavicular acroosteolysis ; Proptosis ; Pulmonary arterial [mousephenotype.org]

[…] symbols: BAF ) Mouse Orthologs Banf1 (Withdrawn symbols: C78287 ) Source OMIM:614008 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse Models phenotype-based [mousephenotype.org]

Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion [rarediseases.info.nih.gov]

nose [ 86 Csoka AB, Cao H, Sammak PJ, et al. [tandfonline.com]

Cryptorchidism, idiopathic, 219050 (3) INSL4 G:600910. . INSL5 G:606413. . INSL6 G:606414. . INSM1 G:600010. . INSM2 G:614027. . [usegalaxy.org]